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
LRRTM3	347731	broad.mit.edu	37	10	68687991	68687991	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:68687991C>G	ENST00000361320.4	+	2	1895	c.1317C>G	c.(1315-1317)taC>taG	p.Y439*	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	439						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTTATCTACGTGTCATGGA	0.542000													26	86					0	0	0.021523	0	0
ANK3	288	broad.mit.edu	37	10	61828625	61828625	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:61828625C>T	ENST00000280772.1	-	37	12205	c.12014G>A	c.(12013-12015)gGt>gAt	p.G4005D	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)	4005					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGTCTCACCACTAATTCC	0.433000													38	88					0	0	0.023175	0	0
FAM135B	51059	broad.mit.edu	37	8	139263091	139263091	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139263091A>G	ENST00000395297.1	-	6	705	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	179										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTGATCAATGGCTGCTGC	0.562000										HNSCC(54;0.14)			30	50					0	0	0.010818	0	0
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:9561116G>T	ENST00000378429.3	-	5	1212	c.666C>A	c.(664-666)gcC>gcA	p.A222A	PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488000													20	43					2.39187e-15	3.18745e-15	0.008871	1	0
GRM8	2918	broad.mit.edu	37	7	126173021	126173021	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:126173021G>T	ENST00000339582.2	-	9	3223	c.2415C>A	c.(2413-2415)gcC>gcA	p.A805A	GRM8_ENST00000444921.2_Silent_p.A805A|GRM8_ENST00000358373.3_Silent_p.A805A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	805					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGCTGACTGGGCTGTACCAA	0.388000										HNSCC(24;0.065)			18	23					1.67942e-08	1.94012e-08	0.006122	1	0
CCDC130	81576	broad.mit.edu	37	19	13869957	13869957	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:13869957G>T	ENST00000586600.1	+	9	947	c.444G>T	c.(442-444)cgG>cgT	p.R148R	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.R148R			P13994	CC130_HUMAN	coiled-coil domain containing 130	148					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCATGTTCCGGCTGGAGCATG	0.652000													4	10					0.00909568	0.00931398	0.009096	1	0
PHTF2	57157	broad.mit.edu	37	7	77569410	77569410	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:77569410G>A	ENST00000416283.2	+	12	1555	c.1429G>A	c.(1429-1431)Ggt>Agt	p.G477S	PHTF2_ENST00000424760.1_Missense_Mutation_p.G473S|PHTF2_ENST00000248550.7_Missense_Mutation_p.G511S|PHTF2_ENST00000422959.2_Missense_Mutation_p.G477S|PHTF2_ENST00000307305.8_Missense_Mutation_p.G473S|PHTF2_ENST00000275575.7_Missense_Mutation_p.G473S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCTCATACTGGGTTTAACTCC	0.408000													21	59					0	0	0.008871	0	0
KCNU1	157855	broad.mit.edu	37	8	36776389	36776389	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:36776389G>A	ENST00000399881.3	+	23	2607	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTGCCGAAAAGTCCCT	0.358000													17	84					0	0	0.006122	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100492321	100492321	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:100492321T>C	ENST00000279907.7	-	5	551		c.e5-2		UHRF1BP1L_ENST00000356828.3_Splice_Site	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCGTATTCACTGGAAAAACAA	0.328000													16	23					0	0	0.024245	0	0
SASH1	23328	broad.mit.edu	37	6	148867161	148867161	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:148867161G>T	ENST00000367467.3	+	19	3834	c.3359G>T	c.(3358-3360)tGt>tTt	p.C1120F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1120							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATGGCCGCTGTGGGATTCCT	0.522000													39	19					1.7489e-18	2.41228e-18	0.011902	1	0
PTPRO	5800	broad.mit.edu	37	12	15654948	15654948	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:15654948C>G	ENST00000281171.4	+	5	1386	c.1056C>G	c.(1054-1056)ccC>ccG	p.P352P	PTPRO_ENST00000348962.2_Silent_p.P352P|PTPRO_ENST00000543886.1_Silent_p.P352P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	352	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTACCACCCAAACCACCCA	0.418000													21	63					0	0	0.010504	0	0
BRCA2	675	broad.mit.edu	37	13	32907114	32907114	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:32907114G>T	ENST00000544455.1	+	10	1726	c.1499G>T	c.(1498-1500)gGt>gTt	p.G500V	BRCA2_ENST00000380152.3_Missense_Mutation_p.G500V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	500					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTTCAGGGTATCAAAAAG	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	33					4.26978e-12	5.36868e-12	0.018920	1	0
ELANE	1991	broad.mit.edu	37	19	852883	852883	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:852883G>A	ENST00000590230.1	+	3	216	c.75G>A	c.(73-75)gcG>gcA	p.A25A	ELANE_ENST00000263621.1_Silent_p.A25A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	25			A -> V (in SCN1).		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGCACCGCGCTGGCCTCGG	0.741000													11	8					0	0	0.010729	0	0
VPS13B	157680	broad.mit.edu	37	8	100523713	100523713	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:100523713A>T	ENST00000358544.2	+	29	4792	c.4681A>T	c.(4681-4683)Aca>Tca	p.T1561S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1536S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1561					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCCAAAAACAGAAGAAAT	0.343000													13	25					0	0	0.020292	0	0
ANKRD52	283373	broad.mit.edu	37	12	56641850	56641850	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:56641850G>A	ENST00000267116.7	-	18	2056	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	645							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCTTGATGAGGGCAGAGG	0.632000													11	19					0	0	0.008291	0	0
NPY1R	4886	broad.mit.edu	37	4	164247365	164247365	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:164247365C>G	ENST00000296533.2	-	2	873	c.342G>C	c.(340-342)aaG>aaC	p.K114N	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	114					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGATTCAACTTACACATCG	0.443000													19	46					0	0	0.007413	0	0
DDX60L	91351	broad.mit.edu	37	4	169305796	169305796	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169305796G>T	ENST00000511577.1	-	30	4330	c.4083C>A	c.(4081-4083)tcC>tcA	p.S1361S	DDX60L_ENST00000260184.7_Silent_p.S1361S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1361							ATP binding|ATP-dependent helicase activity|RNA binding			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)		CATCTCCCTTGGAAGCCAGCA	0.547000													10	22					9.70103e-10	1.15403e-09	0.008291	1	0
NELL2	4753	broad.mit.edu	37	12	45173741	45173741	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:45173741G>A	ENST00000429094.2	-	4	904	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	NELL2_ENST00000437801.2_Missense_Mutation_p.H184Y|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.H133Y|NELL2_ENST00000549027.1_Missense_Mutation_p.H133Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H134Y|NELL2_ENST00000333837.4_Missense_Mutation_p.H157Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H133Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	134	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAGGGCGGTGACTGCCTGAG	0.473000													32	79					0	0	0.010818	0	0
SERGEF	26297	broad.mit.edu	37	11	18010157	18010157	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18010157C>G	ENST00000265965.5	-	8	982	c.831G>C	c.(829-831)ctG>ctC	p.L277L	SERGEF_ENST00000532265.1_Silent_p.L163L|SERGEF_ENST00000528200.1_Silent_p.L277L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	277					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCTGAGCAACCAGGTGTGTCC	0.507000													26	43					0	0	0.006320	0	0
MMP10	4319	broad.mit.edu	37	11	102649421	102649421	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:102649421G>A	ENST00000279441.4	-	4	592	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	186					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCAGGTCCAGGTGGGTAGGCA	0.423000													23	42					0	0	0.016522	0	0
NSA2	10412	broad.mit.edu	37	5	74069717	74069717	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:74069717G>C	ENST00000296802.5	+	5	916	c.547G>C	c.(547-549)Gta>Cta	p.V183L		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	183					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GAAAGCCCATGTAACACATCC	0.403000													31	20					0	0	0.009535	0	0
BPIFB1	92747	broad.mit.edu	37	20	31877739	31877739	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:31877739G>T	ENST00000253354.1	+	4	467	c.306G>T	c.(304-306)tcG>tcT	p.S102S		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	102						extracellular space	lipid binding										TGAAGCCCTCGGCCAATGACC	0.542000													17	47					9.16793e-09	1.06488e-08	0.004990	1	0
NFATC1	4772	broad.mit.edu	37	18	77170505	77170505	+	Missense_Mutation	SNP	C	C	T	rs143045693		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:77170505C>T	ENST00000253506.5	+	2	599	c.230C>T	c.(229-231)cCg>cTg	p.P77L	NFATC1_ENST00000427363.2_Missense_Mutation_p.P77L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P77L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P64L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P64L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P64L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P77L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.P64L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P77L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	77					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		ACCTCCACACCGGGCATCATC	0.692000													32	37					0	0	0.013726	0	0
CALHM1	255022	broad.mit.edu	37	10	105218107	105218107	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:105218107G>A	ENST00000329905.5	-	1	538	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	134						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGCGCTCACGGGCACGGCAG	0.706000													10	17					0	0	0.008291	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971084	31971084	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:31971084C>G	ENST00000334897.3	-	1	135	c.110G>C	c.(109-111)tGc>tCc	p.C37S		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	37						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCAGGAGCTATA	0.562000													14	39					0	0	0.028581	0	0
ENPP3	5169	broad.mit.edu	37	6	132043384	132043384	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132043384C>A	ENST00000414305.1	+	19	1913	c.1585C>A	c.(1585-1587)Cca>Aca	p.P529T	ENPP3_ENST00000357639.3_Missense_Mutation_p.P529T|ENPP3_ENST00000358229.5_Missense_Mutation_p.P529T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	529					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACGCATTCAACCAGCACCAAA	0.408000													29	23					3.67414e-24	5.3442e-24	0.012213	1	0
MME	4311	broad.mit.edu	37	3	154802866	154802866	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:154802866C>G	ENST00000460393.1	+	3	299	c.179C>G	c.(178-180)tCa>tGa	p.S60*	MME_ENST00000360490.2_Nonsense_Mutation_p.S60*|MME_ENST00000492661.1_Nonsense_Mutation_p.S60*|MME_ENST00000493237.1_Nonsense_Mutation_p.S60*|MME_ENST00000462745.1_Nonsense_Mutation_p.S60*|MME_ENST00000382989.3_Nonsense_Mutation_p.S60*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	60					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	tgcaagtcatcagactgcata	0.244000													42	12					0	0	0.009718	0	0
OR4D2	124538	broad.mit.edu	37	17	56247544	56247544	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:56247544C>T	ENST00000545221.1	+	1	528	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTTGGATAACTTCTACTGTG	0.547000													48	99					0	0	0.014410	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599754	161599754	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:161599754G>C	ENST00000294800.3	-	3	406	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	45	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532000													24	74					0	0	0.027356	0	0
IGHG1	3500	broad.mit.edu	37	14	106208281	106208281	+	RNA	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:106208281A>G	ENST00000390548.2	-	0	618																											GCTTTGTTGGAGACCTTGCAC	0.627000													56	180					0	0	0.014410	0	0
PALLD	23022	broad.mit.edu	37	4	169630280	169630280	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169630280C>A	ENST00000335742.7	+	9	1814	c.457C>A	c.(457-459)Cag>Aag	p.Q153K	PALLD_ENST00000261509.6_Missense_Mutation_p.Q535K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q153K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q535K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	535					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGCCCAGCTGGTTGT	0.498000									Pancreatic Cancer, Familial Clustering of				23	45					9.57634e-11	1.1674e-10	0.018920	1	0
CLSTN2	64084	broad.mit.edu	37	3	140167468	140167468	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:140167468A>T	ENST00000458420.3	+	6	1085	c.895A>T	c.(895-897)Aca>Tca	p.T299S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	299					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGATCGTCACAGAGCTGCA	0.532000										HNSCC(16;0.037)			35	127					0	0	0.025465	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223346	140223346	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140223346T>C	ENST00000378123.3	+	1	2440	c.2440T>C	c.(2440-2442)Ttg>Ctg	p.L814L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031856.1	NP_114062.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGGAAATTGTAGTTACT	0.274000													23	20					0	0	0.018920	0	0
FER1L6	654463	broad.mit.edu	37	8	124978246	124978246	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:124978246G>A	ENST00000522917.1	+	4	403		c.e4-1		FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)							integral to membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTTAATAGATCAAAACTG	0.358000													6	21					0	0	0.001984	0	0
THUMPD2	80745	broad.mit.edu	37	2	39971589	39971589	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:39971589T>C	ENST00000505747.1	-	9	1135	c.1108A>G	c.(1108-1110)Att>Gtt	p.I370V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.I340V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	370							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GAAATAATAATATCAACACTT	0.279000													16	30					0	0	0.007413	0	0
ZBBX	79740	broad.mit.edu	37	3	167068208	167068208	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:167068208C>A	ENST00000392766.2	-	9	868	c.528_splice	c.e9+1	p.Q176_splice	ZBBX_ENST00000392764.1_Splice_Site_p.Q147_splice|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Splice_Site_p.Q176_splice|ZBBX_ENST00000392767.2_Splice_Site_p.Q176_splice|ZBBX_ENST00000455345.2_Splice_Site_p.Q176_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	176						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGCCATACCTGCAAAAGAG	0.343000													53	242					8.13277e-46	1.25724e-45	0.014410	1	0
SEPHS1	22929	broad.mit.edu	37	10	13378324	13378324	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:13378324G>A	ENST00000327347.5	-	4	699	c.324C>T	c.(322-324)ctC>ctT	p.L108L	SEPHS1_ENST00000378614.4_Silent_p.L108L|SEPHS1_ENST00000545675.1_Silent_p.L108L|SEPHS1_ENST00000537130.1_Silent_p.L41L	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	108					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGAGGTCACTGAGGACATTGG	0.517000													10	69					0	0	0.010729	0	0
FAT3	120114	broad.mit.edu	37	11	92087428	92087428	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92087428C>T	ENST00000298047.6	+	1	2167	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	FAT3_ENST00000525166.1_Missense_Mutation_p.S567L|FAT3_ENST00000541502.1_Missense_Mutation_p.S717L|FAT3_ENST00000409404.2_Missense_Mutation_p.S717L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	717					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTTTATTCAATTAATAGA	0.398000										TCGA Ovarian(4;0.039)			49	145					0	0	0.014410	0	0
WNK1	65125	broad.mit.edu	37	12	977384	977384	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:977384A>G	ENST00000537687.1	+	9	3135	c.2492A>G	c.(2491-2493)tAt>tGt	p.Y831C	WNK1_ENST00000530271.2_Missense_Mutation_p.Y916C|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.Y130C|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACAGTGACTATAGACCTGGA	0.463000													7	11					0	0	0.001984	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668217	160668217	+	Splice_Site	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:160668217T>G	ENST00000366952.1	-	7	2374	c.894_splice	c.e7+1	p.Q298_splice	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.Q319_splice			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	319					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTGGCTCACCTGAAGGGAGGC	0.488000													50	27					0	0	0.014410	0	0
SPAG11A	653423	broad.mit.edu	37	8	7717939	7717939	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:7717939G>T	ENST00000434307.2	+	3	452	c.285G>T	c.(283-285)tgG>tgT	p.W95C	SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000454911.2_Missense_Mutation_p.W42C|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000326625.5_Intron					sperm associated antigen 11A											central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GGCCTAGATGGGCCAGGTGAG	0.448000													14	52					0.000219431	0.00023098	0.020292	1	0
MAD1L1	8379	broad.mit.edu	37	7	1937853	1937853	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:1937853C>T	ENST00000406869.1	-	18	2538	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	MAD1L1_ENST00000265854.7_Missense_Mutation_p.D661N|MAD1L1_ENST00000402746.1_Missense_Mutation_p.D569N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D661N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	661					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATGAGGCAGTCGCCTGGGTGC	0.627000													4	9					0	0	0.009096	0	0
OR2T11	127077	broad.mit.edu	37	1	248790416	248790416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248790416G>C	ENST00000330803.2	-	1	75	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GTCAGAGGATGATGTGTTCGT	0.547000													17	44					0	0	0.006122	0	0
ATAD3B	83858	broad.mit.edu	37	1	1430870	1430870	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1430870G>A	ENST00000308647.7	+	16	1736	c.1620G>A	c.(1618-1620)acG>acA	p.T540T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	540							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAGGCCACGGCATATGCCT	0.632000													23	15					0	0	0.012319	0	0
RFPL1	5988	broad.mit.edu	37	22	29835041	29835041	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:29835041G>A	ENST00000354373.2	+	1	470	c.261G>A	c.(259-261)aaG>aaA	p.K87K	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	87							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTCTCAGAAGAACAAAATCA	0.517000													28	70					0	0	0.007291	0	0
DRD2	1813	broad.mit.edu	37	11	113295162	113295162	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:113295162T>A	ENST00000362072.3	-	2	556	c.212A>T	c.(211-213)tAc>tTc	p.Y71F	DRD2_ENST00000544518.1_Missense_Mutation_p.Y71F|DRD2_ENST00000542968.1_Missense_Mutation_p.Y71F|DRD2_ENST00000538967.1_Missense_Mutation_p.Y71F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.Y71F|DRD2_ENST00000346454.3_Missense_Mutation_p.Y71F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	71					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACGATCAGGTAGTTGGTGGT	0.637000													16	38					0	0	0.006122	0	0
AVPR1B	553	broad.mit.edu	37	1	206224591	206224591	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:206224591G>C	ENST00000367126.4	+	1	616	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	51					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGACCGGGGGCAACCTGGC	0.682000													21	59					0	0	0.016522	0	0
CDH11	1009	broad.mit.edu	37	16	65022110	65022110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:65022110C>A	ENST00000394156.3	-	7	1402	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	CDH11_ENST00000268603.4_Nonsense_Mutation_p.E317*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E191*			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTGTGATTTCAAACGATTCC	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			71	106					9.42754e-34	1.43658e-33	0.014410	1	0
MAP1A	4130	broad.mit.edu	37	15	43821049	43821049	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:43821049T>A	ENST00000382031.1	+	5	8123	c.8092T>A	c.(8092-8094)Tcc>Acc	p.S2698T	MAP1A_ENST00000399453.1_Missense_Mutation_p.S2460T|MAP1A_ENST00000300231.5_Missense_Mutation_p.S2460T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2460						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTGCCCCCATCCATAGATGA	0.662000													25	16					0	0	0.016522	0	0
TNIK	23043	broad.mit.edu	37	3	170843830	170843830	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:170843830C>A	ENST00000436636.2	-	17	2228	c.1884G>T	c.(1882-1884)gtG>gtT	p.V628V	TNIK_ENST00000369326.5_Silent_p.V599V|TNIK_ENST00000357327.5_Silent_p.V599V|TNIK_ENST00000341852.6_Silent_p.V544V|TNIK_ENST00000284483.8_Silent_p.V628V|TNIK_ENST00000488470.1_Silent_p.V573V|TNIK_ENST00000475336.1_Silent_p.V544V|TNIK_ENST00000470834.1_Silent_p.V599V|TNIK_ENST00000538048.1_Silent_p.V573V|TNIK_ENST00000460047.1_Silent_p.V573V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	628	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTGGGAGGTCACGTTCAGAG	0.577000													18	83					0.00121646	0.00126386	0.008871	1	0
SCN9A	6335	broad.mit.edu	37	2	167056252	167056252	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:167056252G>T	ENST00000375387.4	-	27	5240	c.4900C>A	c.(4900-4902)Ctg>Atg	p.L1634M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1622M|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1634M|SCN9A_ENST00000409435.1_Missense_Mutation_p.L1633M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1633						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAAAGAGCAGCGTGCGGATC	0.502000													54	109					1.0442e-30	1.57987e-30	0.014410	1	0
RBFOX1	54715	broad.mit.edu	37	16	7629790	7629790	+	Silent	SNP	C	C	T	rs145861898	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:7629790C>T	ENST00000340209.4	+	3	594	c.297C>T	c.(295-297)gaC>gaT	p.D99D	RBFOX1_ENST00000436368.2_Silent_p.D114D|RBFOX1_ENST00000553186.1_Silent_p.D94D|RBFOX1_ENST00000550418.1_Silent_p.D94D|RBFOX1_ENST00000422070.4_Silent_p.D137D|RBFOX1_ENST00000547338.1_Silent_p.D94D|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Silent_p.D129D|RBFOX1_ENST00000547372.1_Silent_p.D137D|RBFOX1_ENST00000355637.4_Silent_p.D114D|RBFOX1_ENST00000311745.5_Silent_p.D114D			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	94					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGACAGATGACGCAGCACCGA	0.517000													40	56					0	0	0.007835	0	0
CNTN5	53942	broad.mit.edu	37	11	99944884	99944884	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99944884C>A	ENST00000524871.1	+	13	1728	c.1438C>A	c.(1438-1440)Ccc>Acc	p.P480T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P480T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P480T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTTCAGCTCCCACTTTTGC	0.368000													10	30					5.50884e-06	5.98583e-06	0.013537	1	0
RIMS2	9699	broad.mit.edu	37	8	104898351	104898351	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104898351C>T	ENST00000507740.1	+	2	1184	c.948C>T	c.(946-948)cgC>cgT	p.R316R	RIMS2_ENST00000406091.3_Silent_p.R508R|RIMS2_ENST00000436393.2_Silent_p.R286R|RIMS2_ENST00000262231.10_Silent_p.R316R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	539					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTAAAATGCGCCAGATTTCGT	0.423000										HNSCC(12;0.0054)			13	24					0	0	0.020292	0	0
NRK	203447	broad.mit.edu	37	X	105132386	105132386	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:105132386C>A	ENST00000428173.2	+	5	655	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	NRK_ENST00000243300.9_Missense_Mutation_p.P118T|NRK_ENST00000536164.1_Missense_Mutation_p.P118T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	118	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			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						CAAGCTGAGTCCCCCTGGTCA	0.398000										HNSCC(51;0.14)			5	2					5.9392e-07	6.64526e-07	0.021553	1	0
MEF2C	4208	broad.mit.edu	37	5	88119603	88119603	+	Translation_Start_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:88119603C>A	ENST00000504921.2	-	2	675	c.3G>T	c.(1-3)atG>atT	p.M1I	MEF2C_ENST00000539796.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514028.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000340208.5_Start_Codon_SNP_p.M1I|MEF2C_ENST00000508569.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000437473.2_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514015.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000510942.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000506554.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000424173.2_Start_Codon_SNP_p.M1I			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	1					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTCTCCCCATAGTCCCCG	0.343000										HNSCC(66;0.2)			134	135					1.23427e-62	1.91266e-62	0.014410	1	0
CDH8	1006	broad.mit.edu	37	16	61935119	61935119	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:61935119G>T	ENST00000577390.1	-	3	1465	c.511C>A	c.(511-513)Ccc>Acc	p.P171T	CDH8_ENST00000577730.1_Missense_Mutation_p.P171T|CDH8_ENST00000299345.6_Missense_Mutation_p.P171T|CDH8_ENST00000584337.1_Missense_Mutation_p.P171T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	171	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATGATAGGGTCCATTAAGA	0.398000													30	59					4.02929e-09	4.74034e-09	0.010818	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993368	140993368	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:140993368G>T	ENST00000285879.4	+	4	464	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	60							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTCTGAGGGGGAGGACTC	0.602000										HNSCC(15;0.026)			42	31					4.67007e-22	6.65666e-22	0.008740	1	0
NME8	51314	broad.mit.edu	37	7	37903952	37903952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:37903952G>A	ENST00000199447.4	+	9	829	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	NME8_ENST00000440017.1_Missense_Mutation_p.E153K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	153					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTTTCCAGAGGAATTATACAG	0.284000													12	24					0	0	0.016723	0	0
MYO5C	55930	broad.mit.edu	37	15	52532055	52532055	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:52532055C>A	ENST00000261839.7	-	21	2739	c.2578G>T	c.(2578-2580)Gtg>Ttg	p.V860L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	860	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTAGGATCACAGCCTTATGT	0.463000													15	23					1.05317e-09	1.2482e-09	0.020292	1	0
ZPBP	11055	broad.mit.edu	37	7	50129302	50129302	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:50129302C>G	ENST00000046087.2	-	2	200	c.131G>C	c.(130-132)gGa>gCa	p.G44A	ZPBP_ENST00000419417.1_Missense_Mutation_p.G44A	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	44					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AACCAAGTGTCCAACTATCAA	0.318000													16	22					0	0	0.007413	0	0
LYZL4	131375	broad.mit.edu	37	3	42445602	42445602	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:42445602T>C	ENST00000287748.3	-	4	582	c.307A>G	c.(307-309)Aat>Gat	p.N103D	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.N103D	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	103					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTCTCTAAATTAGGATTCAGT	0.388000													18	15					0	0	0.016522	0	0
CDK14	5218	broad.mit.edu	37	7	90419960	90419960	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:90419960C>T	ENST00000406263.1	+	4	841	c.399C>T	c.(397-399)atC>atT	p.I133I	CDK14_ENST00000380050.3_Silent_p.I179I|CDK14_ENST00000436577.2_Silent_p.I50I|CDK14_ENST00000265741.3_Silent_p.I161I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	179					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCACAGCTATCAGGGAAGGTA	0.403000													15	32					0	0	0.020292	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386463	118386463	+	RNA	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:118386463T>A	ENST00000537242.1	+	0	445				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGCAAAACATTCGGGTTGTT	0.557000													8	11					0	0	0.004482	0	0
GTSE1	51512	broad.mit.edu	37	22	46722418	46722418	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:46722418C>T	ENST00000454366.1	+	9	1803	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	512					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTCAGCCTTGCCCACACCCGC	0.652000													21	37					0	0	0.016522	0	0
ETNPPL	64850	broad.mit.edu	37	4	109674060	109674060	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:109674060A>T	ENST00000296486.3	-	6	763	c.609T>A	c.(607-609)agT>agA	p.S203R	ETNPPL_ENST00000411864.2_Missense_Mutation_p.S197R|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S145R|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S163R	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CCTTCCTTCCACTGTTATGAG	0.363000													33	86					0	0	0.013726	0	0
GAS7	8522	broad.mit.edu	37	17	10101583	10101583	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:10101583C>A	ENST00000432992.2	-	1	285	c.125G>T	c.(124-126)gGc>gTc	p.G42V	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	42	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTCCTTCTCGCCTTCCCACCA	0.726000			T	MLL	AML*								17	31					8.34094e-07	9.28382e-07	0.008871	1	0
VIP	7432	broad.mit.edu	37	6	153077303	153077303	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:153077303C>A	ENST00000367244.3	+	5	542	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	VIP_ENST00000367243.3_Missense_Mutation_p.R123S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	124					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACCAGTCAAACGTCACTCAGA	0.383000													67	43					1.93348e-29	2.90475e-29	0.014410	1	0
CAPZB	832	broad.mit.edu	37	1	19671737	19671737	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:19671737C>G	ENST00000264203.3	-	8	1169	c.676G>C	c.(676-678)Gat>Cat	p.D226H	CAPZB_ENST00000433834.1_Missense_Mutation_p.D229H|CAPZB_ENST00000375144.1_Missense_Mutation_p.D188H|CAPZB_ENST00000375142.1_Missense_Mutation_p.D200H|CAPZB_ENST00000401084.2_Missense_Mutation_p.D200H|CAPZB_ENST00000264202.6_Missense_Mutation_p.D200H			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	200					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACAGTTTCATCCTTCTCCATC	0.557000													4	110					0	0	0.009096	0	0
LATS1	9113	broad.mit.edu	37	6	150005102	150005102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:150005102G>A	ENST00000543571.1	-	4	1670	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	LATS1_ENST00000253339.5_Missense_Mutation_p.P375S|LATS1_ENST00000392273.3_Missense_Mutation_p.P375S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	375					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			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)		AGAGGATATGGAGGTGGTGGC	0.478000													40	30					0	0	0.025465	0	0
FMN2	56776	broad.mit.edu	37	1	240255689	240255689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240255689C>T	ENST00000319653.9	+	1	510	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	94					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			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)			CGGCGGCTCCCGCGAAGATGT	0.622000													7	14					0	0	0.003080	0	0
ZNF208	7757	broad.mit.edu	37	19	22154585	22154585	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22154585G>T	ENST00000397126.4	-	4	3399	c.3251C>A	c.(3250-3252)cCc>cAc	p.P1084H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTCCTCTCC	0.428000													36	86					1.03484e-13	1.34068e-13	0.023175	1	0
TECRL	253017	broad.mit.edu	37	4	65180375	65180375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:65180375G>A	ENST00000381210.3	-	5	652	c.542C>T	c.(541-543)cCa>cTa	p.P181L	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P181L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438000													19	42					0	0	0.006122	0	0
HECTD4	283450	broad.mit.edu	37	12	112684766	112684766	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:112684766G>C	ENST00000550722.1	-	29	4409	c.4014C>G	c.(4012-4014)gtC>gtG	p.V1338V	HECTD4_ENST00000430131.2_Silent_p.V1062V|HECTD4_ENST00000377560.5_Silent_p.V1312V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGCGATGGTGACATGCAGCA	0.493000													22	24					0	0	0.014323	0	0
SPOCD1	90853	broad.mit.edu	37	1	32267266	32267266	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:32267266T>C	ENST00000360482.2	-	3	1553	c.1425_splice	c.e3+1	p.Y475_splice	SPOCD1_ENST00000533231.1_Splice_Site_p.Y475_splice|SPOCD1_ENST00000373648.2_Splice_Site_p.Y475_splice|SPOCD1_ENST00000257100.3_5'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	475					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAAACCTACGTAGCACACAAG	0.507000													22	57					0	0	0.012319	0	0
DNAH7	56171	broad.mit.edu	37	2	196659142	196659142	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196659142C>A	ENST00000312428.6	-	57	10736	c.10636G>T	c.(10636-10638)Ggt>Tgt	p.G3546C	DNAH7_ENST00000409063.1_Missense_Mutation_p.G29C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3546	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCCGTAAACCTTTTGGTGCT	0.438000													35	85					6.90743e-12	8.66814e-12	0.017118	1	0
FAM86C1	55199	broad.mit.edu	37	11	71507140	71507140	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:71507140C>A	ENST00000359244.4	+	4	362	c.339C>A	c.(337-339)agC>agA	p.S113R	FAM86C1_ENST00000426628.2_Missense_Mutation_p.S106R|FAM86C1_ENST00000528685.1_Missense_Mutation_p.S79R|FAM86C1_ENST00000346333.6_Missense_Mutation_p.S79R	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	113										lung(1)	1						GGAGCACCAGCGGGCTCCTCA	0.632000													46	119					7.88023e-25	1.15673e-24	0.014410	1	0
KLRB1	3820	broad.mit.edu	37	12	9751243	9751243	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:9751243G>T	ENST00000229402.3	-	4	312	c.266C>A	c.(265-267)cCg>cAg	p.P89Q		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	89					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TAAGAGACCCGGTCTCTCTAA	0.373000													32	72					4.31634e-10	5.17314e-10	0.012213	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067285	18067285	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:18067285A>T	ENST00000506618.2	-	1	201	c.121T>A	c.(121-123)Tgc>Agc	p.C41S		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	41					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATTTCCACGCAGGTCTCCTGG	0.512000													65	138					0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	95995801	95995801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:95995801G>T	ENST00000260766.3	+	7	2978	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.E782*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E474*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E474*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	782	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCGAAGTCTGGAGACAGACGA	0.468000													15	16					1.3612e-06	1.50983e-06	0.024245	1	0
DPP6	1804	broad.mit.edu	37	7	154684051	154684051	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:154684051C>G	ENST00000404039.1	+	26	2854	c.2267C>G	c.(2266-2268)cCg>cGg	p.P756R	DPP6_ENST00000377770.3_Missense_Mutation_p.P820R|DPP6_ENST00000332007.3_Missense_Mutation_p.P758R|DPP6_ENST00000427557.1_Missense_Mutation_p.P713R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	820					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGATTTACCCGGACGAAAGC	0.517000													30	48					0	0	0.007291	0	0
ALOX12-AS1	100506713	broad.mit.edu	37	17	6913397	6913397	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:6913397T>C	ENST00000574377.1	-	2	195	c.20A>G	c.(19-21)gAc>gGc	p.D7G	AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|ALOX12_ENST00000251535.6_Silent_p.C588C|RP11-589P10.7_ENST00000572547.1_RNA																							GGCAGGCCTGTCTTCAAATGG	0.562000													13	34					0	0	0.016723	0	0
HBG2	3048	broad.mit.edu	37	11	5275578	5275578	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5275578C>T	ENST00000380259.2	-	7	1499	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	HBG2_ENST00000336906.4_Missense_Mutation_p.A87T|HBG2_ENST00000380252.1_Missense_Mutation_p.A77T					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGCTGGGCAAAGGTGCCC	0.517000													25	197					0	0	0.009535	0	0
GDPD4	220032	broad.mit.edu	37	11	76940195	76940195	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:76940195C>A	ENST00000315938.4	-	14	1722	c.1472_splice	c.e14+1	p.W491_splice	GDPD4_ENST00000376217.2_Splice_Site_p.W491_splice	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	491					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						atataCTTACCAGTGAAAACA	0.303000													8	21					5.18039e-06	5.67714e-06	0.003080	1	0
TSIX	9383	broad.mit.edu	37	X	73041720	73041720	+	RNA	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:73041720G>A	ENST00000604411.1	+	0	29681				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGCCCTTCTTGAGCAGATTTG	0.299000													11	6					0	0	0.008291	0	0
OR8D2	283160	broad.mit.edu	37	11	124189698	124189698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:124189698G>T	ENST00000357438.2	-	1	486	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGACAATATTGTAAAGCAGTG	0.443000													11	32					2.80697e-09	3.3084e-09	0.010729	1	0
TTN	7273	broad.mit.edu	37	2	179481873	179481873	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179481873C>A	ENST00000589042.1	-	255	48073	c.47849G>T	c.(47848-47850)gGt>gTt	p.G15950V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7077V|TTN_ENST00000359218.5_Missense_Mutation_p.G7010V|TTN_ENST00000591111.1_Missense_Mutation_p.G14309V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G6885V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13382V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14309	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGAGAGGACCAAGAATTTC	0.368000													7	18					1.12685e-05	1.21822e-05	0.004482	1	0
SI	6476	broad.mit.edu	37	3	164785240	164785240	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164785240G>C	ENST00000264382.3	-	6	585	c.523C>G	c.(523-525)Cag>Gag	p.Q175E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	175	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTACATACTGATGAGGAACT	0.338000										HNSCC(35;0.089)			26	147					0	0	0.024334	0	0
MATN1	4146	broad.mit.edu	37	1	31187158	31187158	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:31187158G>A	ENST00000373765.4	-	7	1412	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	459					protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTCGCAGGCACACGGGT	0.627000													4	13					0	0	0.009096	0	0
CNRIP1	25927	broad.mit.edu	37	2	68521024	68521024	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:68521024C>A	ENST00000263655.3	-	3	1070	c.465G>T	c.(463-465)ctG>ctT	p.L155L	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	155							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCACCCACATCAGACTGCGTG	0.473000													25	40					2.79863e-10	3.36678e-10	0.024334	1	0
TADA2A	6871	broad.mit.edu	37	17	35818669	35818669	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:35818669G>T	ENST00000394395.2	+	9	821	c.648G>T	c.(646-648)aaG>aaT	p.K216N	TADA2A_ENST00000417170.1_Missense_Mutation_p.K216N|TADA2A_ENST00000586023.1_Missense_Mutation_p.K216N|TADA2A_ENST00000225396.6_Missense_Mutation_p.K216N|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	216					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCAGGTTAAAGGAGAGACAAA	0.323000													13	34					2.32078e-09	2.74041e-09	0.024245	1	0
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:132307171G>C	ENST00000331898.7	-	4	1187	c.609C>G	c.(607-609)agC>agG	p.S203R	OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542000													26	42					0	0	0.018920	0	0
LRRC7	57554	broad.mit.edu	37	1	70300502	70300502	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:70300502G>T	ENST00000310961.5	+	7	859	c.441G>T	c.(439-441)caG>caT	p.Q147H	LRRC7_ENST00000370958.1_Missense_Mutation_p.Q180H|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q142H|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	142						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCTGACCCAGCTCTACCTGA	0.358000													23	47					6.21321e-17	8.44258e-17	0.016522	1	0
CSMD1	64478	broad.mit.edu	37	8	2820916	2820916	+	Splice_Site	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820916G>T	ENST00000602557.1	-	61	9840	c.9283_splice	c.e61-1	p.A3095_splice	CSMD1_ENST00000537824.1_Splice_Site_p.A3094_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A2918_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A2917_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A3095_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A2918_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3095	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACACAGCACGGCTATTTCCA	0.498000													51	101					6.56871e-35	1.00574e-34	0.014410	1	0
CRYBB1	1414	broad.mit.edu	37	22	26995525	26995525	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:26995525G>T	ENST00000215939.2	-	6	818	c.688C>A	c.(688-690)Cgt>Agt	p.R230S		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	230	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGCAGGCGACGCAGGGACTGC	0.627000													21	45					8.10497e-08	9.21347e-08	0.010504	1	0
OR5F1	338674	broad.mit.edu	37	11	55761731	55761731	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:55761731G>A	ENST00000278409.1	-	1	370	c.371C>T	c.(370-372)gCg>gTg	p.A124V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A124E(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATATGGCCGCATACCTGTC	0.507000													3	32					0	0	0.006214	0	0
KCNQ3	3786	broad.mit.edu	37	8	133175730	133175730	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:133175730A>T	ENST00000388996.4	-	9	1667	c.1247T>A	c.(1246-1248)cTg>cAg	p.L416Q	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L416Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L296Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	416					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTGCCTCCAGCTGTTCTTT	0.443000													22	48					0	0	0.016522	0	0
REG3G	130120	broad.mit.edu	37	2	79254295	79254295	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:79254295C>A	ENST00000272324.5	+	4	515	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.Q111K	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	111	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCCCACACAGGTGCGAGT	0.557000													33	67					3.76114e-14	4.9025e-14	0.019004	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431878	56431878	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56431878C>A	ENST00000302969.2	+	1	741	c.717C>A	c.(715-717)tcC>tcA	p.S239S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGGCTTTCTCCACCTGCGGGT	0.483000													24	90					2.21704e-12	2.80971e-12	0.016522	1	0
LMNB1	4001	broad.mit.edu	37	5	126154638	126154638	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:126154638C>G	ENST00000261366.5	+	6	1325	c.964C>G	c.(964-966)Caa>Gaa	p.Q322E	LMNB1_ENST00000395354.1_Missense_Mutation_p.Q322E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	322	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGAAAGGATTCAAGAATTAGA	0.388000													69	41					0	0	0.014410	0	0
INSC	387755	broad.mit.edu	37	11	15197552	15197552	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15197552G>C	ENST00000379554.3	+	3	509	c.463G>C	c.(463-465)Gtg>Ctg	p.V155L	INSC_ENST00000424273.1_Missense_Mutation_p.V108L|INSC_ENST00000530161.1_Missense_Mutation_p.V108L|INSC_ENST00000525218.1_Missense_Mutation_p.V108L|INSC_ENST00000379556.3_Missense_Mutation_p.V108L|INSC_ENST00000528567.1_Missense_Mutation_p.V108L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	155					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCATGAGCGTGCGTCTGAC	0.627000													8	10					0	0	0.003080	0	0
GPR101	83550	broad.mit.edu	37	X	136112905	136112905	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:136112905C>T	ENST00000298110.1	-	1	928	c.929G>A	c.(928-930)aGc>aAc	p.S310N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCACCGTGCTGCTCTCTCT	0.602000													72	51					0	0	0.014410	0	0
TRIP12	9320	broad.mit.edu	37	2	230652349	230652349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:230652349G>A	ENST00000283943.5	-	32	4820	c.4642C>T	c.(4642-4644)Caa>Taa	p.Q1548*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1278*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1596*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1548	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAAGCATTTGCCGGGTATCA	0.353000													14	31					0	0	0.020292	0	0
C20orf27	54976	broad.mit.edu	37	20	3735131	3735131	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:3735131C>G	ENST00000379772.3	-	5	1147	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	C20orf27_ENST00000217195.8_Missense_Mutation_p.E138Q	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	113										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						AGGACGCCCTCTTTGTGCGCC	0.632000													24	53					0	0	0.027356	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474423	78474423	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:78474423T>C	ENST00000258873.4	-	8	1164	c.959A>G	c.(958-960)gAg>gGg	p.E320G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E78G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E78G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	320					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GACTACCACCTCCTGCTGGAC	0.627000													21	32					0	0	0.008871	0	0
DENND2A	27147	broad.mit.edu	37	7	140301270	140301270	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:140301270A>C	ENST00000275884.6	-	2	1345	c.928T>G	c.(928-930)Tct>Gct	p.S310A	DENND2A_ENST00000492720.1_Missense_Mutation_p.S310A|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310A|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310								p.S310A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ggtgggggagaggagggcaga	0.597000													14	37					0	0	0.006122	0	0
BAI3	577	broad.mit.edu	37	6	69666697	69666697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:69666697C>A	ENST00000370598.1	+	8	2342	c.1521C>A	c.(1519-1521)tgC>tgA	p.C507*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	507	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCAGCGATGCCCTGGTGAGA	0.423000													39	30					1.49673e-21	2.12397e-21	0.025465	1	0
EN2	2020	broad.mit.edu	37	7	155255140	155255140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:155255140G>T	ENST00000297375.4	+	2	1009	c.760G>T	c.(760-762)Gag>Tag	p.E254*		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	254						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTACCGCCGAGCAGCTGCA	0.607000													26	85					5.45024e-15	7.22185e-15	0.018920	1	0
CYP2C8	1558	broad.mit.edu	37	10	96796938	96796938	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:96796938T>G	ENST00000371270.3	-	9	1514	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K372Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	474					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAATCCCTTTGGTAACTGCA	0.428000													13	24					0	0	0.024245	0	0
RET	5979	broad.mit.edu	37	10	43608405	43608405	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:43608405T>A	ENST00000355710.3	+	9	1985	c.1753T>A	c.(1753-1755)Tgc>Agc	p.C585S	RET_ENST00000340058.5_Missense_Mutation_p.C585S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	585					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCTCAGGACTGCCTCCGTAA	0.572000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	27					0	0	0.013537	0	0
BRSK1	84446	broad.mit.edu	37	19	55817783	55817783	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55817783G>A	ENST00000309383.1	+	17	2331	c.2054G>A	c.(2053-2055)gGt>gAt	p.G685D	BRSK1_ENST00000590333.1_Missense_Mutation_p.G701D|BRSK1_ENST00000326848.7_Missense_Mutation_p.G380D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	685					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCGGAGGTGGTGGCATCTAC	0.642000													9	33					0	0	0.008291	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581405	196581405	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196581405G>A	ENST00000409086.3	+	7	2016	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SLC39A10_ENST00000541054.1_Missense_Mutation_p.E131K|SLC39A10_ENST00000359634.5_Missense_Mutation_p.E581K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	581					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAATGAAACTGAACTGACAGA	0.348000													20	33					0	0	0.008871	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693211	153693211	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153693211G>A	ENST00000369682.3	+	10	2218	c.2043_splice	c.e10+1	p.E681_splice		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	681					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGCCCTGAGGTGAGGCGGG	0.662000													3	2					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572000		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)			20	62					1.2644e-06	1.40489e-06	0.010504	1	0
PABPC5	140886	broad.mit.edu	37	X	90690743	90690743	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:90690743G>T	ENST00000312600.3	+	2	381	c.167G>T	c.(166-168)cGc>cTc	p.R56L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	56	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGGTGACCCGCAGCCCCCTG	0.532000													9	5					5.68852e-11	7.00126e-11	0.004482	1	0
CLCA1	1179	broad.mit.edu	37	1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:86961284G>A	ENST00000234701.3	+	13	2390	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	680					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.G680E(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463000													22	40					0	0	0.012319	0	0
NRAP	4892	broad.mit.edu	37	10	115350515	115350515	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:115350515A>G	ENST00000369358.4	-	40	5046	c.4802T>C	c.(4801-4803)tTt>tCt	p.F1601S	NRAP_ENST00000360478.3_Missense_Mutation_p.F1558S|NRAP_ENST00000359988.3_Missense_Mutation_p.F1593S|NRAP_ENST00000369360.3_Missense_Mutation_p.F1566S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1593						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACTCTTGGCAAAGTCCTTCTT	0.577000													26	63					0	0	0.021523	0	0
CEP164	22897	broad.mit.edu	37	11	117253621	117253621	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117253621G>C	ENST00000278935.3	+	14	1834	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	563	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGGAGAAGGTGGCGGTCAG	0.637000													17	20					0	0	0.004990	0	0
OR11L1	391189	broad.mit.edu	37	1	248004808	248004808	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248004808G>T	ENST00000355784.2	-	1	446	c.391C>A	c.(391-393)Cgc>Agc	p.R131S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587000													12	29					5.50884e-06	5.98583e-06	0.013537	1	0
IL1R1	3554	broad.mit.edu	37	2	102788275	102788275	+	Missense_Mutation	SNP	T	T	A	rs35308674	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:102788275T>A	ENST00000410023.1	+	8	1054	c.736T>A	c.(736-738)Ttg>Atg	p.L246M	IL1R1_ENST00000409929.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409329.1_Missense_Mutation_p.L246M|IL1R1_ENST00000233946.3_Missense_Mutation_p.L246M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409288.1_Missense_Mutation_p.L246M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	246	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CCAGATACAATTGATCTGTAA	0.338000													10	33					0	0	0.006214	0	0
DOK7	285489	broad.mit.edu	37	4	3494900	3494900	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3494900A>T	ENST00000340083.5	+	7	1252	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.Q396L	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	396					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCGAGTACCAGGTGCCCACC	0.692000													6	10					0	0	0.001984	0	0
BTBD16	118663	broad.mit.edu	37	10	124036332	124036332	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124036332C>A	ENST00000368994.2	+	3	299	c.48C>A	c.(46-48)gtC>gtA	p.V16V	BTBD16_ENST00000260723.4_Silent_p.V15V			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	15										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACGCCGGGTCACTGGCTCAA	0.478000													22	92					1.96292e-10	2.36586e-10	0.010504	1	0
CWC22	57703	broad.mit.edu	37	2	180835757	180835757	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180835757C>G	ENST00000410053.3	-	9	1150	c.851G>C	c.(850-852)aGa>aCa	p.R284T	CWC22_ENST00000295749.6_Missense_Mutation_p.R284T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	284	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ATCTGTTGGTCTTTCCAGGAG	0.353000													16	22					0	0	0.024245	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693223	69693223	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69693223A>G	ENST00000265403.7	+	5	1291	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T338A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	422					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGTCGAGTACAGACCTGCT	0.388000													53	91					0	0	0.014410	0	0
POU5F2	134187	broad.mit.edu	37	5	93076445	93076445	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:93076445C>T	ENST00000510627.4	-	1	898	c.825G>A	c.(823-825)cgG>cgA	p.R275R	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCACAATCTCCCGTGGGGAAG	0.577000													6	16					0	0	0.021553	0	0
PIK3R6	146850	broad.mit.edu	37	17	8707437	8707437	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8707437T>C	ENST00000311434.9	-	20	2266	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	677					platelet activation	cytosol											GCTCTGGATCTGGATATTGTT	0.587000													12	20					0	0	0.016723	0	0
ASXL3	80816	broad.mit.edu	37	18	31224903	31224903	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:31224903C>T	ENST00000269197.5	+	3	183	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCACACTAACACTCGAATAG	0.393000													3	8					0	0	0.009096	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142589	67142589	+	RNA	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:67142589C>G	ENST00000408636.1	+	0	48					NR_031673.1																						cagtccaagtctgaccacctg	0.537000													27	47					0	0	0.024334	0	0
CREBBP	1387	broad.mit.edu	37	16	3781465	3781465	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:3781465C>A	ENST00000262367.5	-	30	5709	c.4900G>T	c.(4900-4902)Gtg>Ttg	p.V1634L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1596L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1634	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGATCACGAAGAAGACC	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	1					0.00198382	0.00205112	0.001984	1	0
MS4A4A	51338	broad.mit.edu	37	11	60073587	60073587	+	Missense_Mutation	SNP	G	G	T	rs148827848		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:60073587G>T	ENST00000355131.3	+	7	727	c.504G>T	c.(502-504)atG>atT	p.M168I	MS4A4A_ENST00000395016.3_Missense_Mutation_p.M168I|MS4A4A_ENST00000337908.4_Missense_Mutation_p.M187I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.M134I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	187						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGGATGGCATGGTGCTCCTCC	0.463000													32	78					1.22384e-17	1.67362e-17	0.013726	1	0
GGT5	2687	broad.mit.edu	37	22	24622662	24622662	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24622662C>G	ENST00000327365.4	-	7	1391	c.975G>C	c.(973-975)acG>acC	p.T325T	GGT5_ENST00000398292.3_Silent_p.T325T|GGT5_ENST00000263112.7_Silent_p.T293T|GGT5_ENST00000418439.2_Silent_p.T248T	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	325					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.T325T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAAACTTGAGCGTCTCTACAA	0.612000													21	61					0	0	0.010504	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780517	106780517	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:106780517G>T	ENST00000390612.2	-	0	418																											TGTGTTTCTCGCACAGTAATA	0.607000													55	136					3.79397e-19	5.25571e-19	0.014410	1	0
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22363718G>A	ENST00000397121.2	-	3	1118	c.801C>T	c.(799-801)acC>acT	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388000													23	60					0	0	0.016522	0	0
FBN2	2201	broad.mit.edu	37	5	127702106	127702106	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127702106A>T	ENST00000508053.1	-	23	3240	c.2266T>A	c.(2266-2268)Tgt>Agt	p.C756S	FBN2_ENST00000508989.1_Missense_Mutation_p.C723S|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.C756S			P35556	FBN2_HUMAN	fibrillin 2	756	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACTACTACAAAGGCCGTGG	0.323000													19	16					0	0	0.014323	0	0
DPPA4	55211	broad.mit.edu	37	3	109047837	109047837	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:109047837T>A	ENST00000335658.6	-	6	832	c.778A>T	c.(778-780)Aag>Tag	p.K260*		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	260						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTCTTGCTTTTCTGGAACC	0.517000													22	19					0	0	0.016522	0	0
WARS2	10352	broad.mit.edu	37	1	119575893	119575893	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:119575893C>A	ENST00000235521.4	-	6	750	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.D148Y	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	242					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCTGGGCTGTCTGTTATTCGG	0.517000													50	91					4.01344e-20	5.59608e-20	0.014410	1	0
ZNF660	285349	broad.mit.edu	37	3	44636619	44636619	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44636619C>T	ENST00000322734.2	+	3	1267	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAAAGCCTATCGGTATAGTTC	0.408000													14	29					0	0	0.020292	0	0
GNAZ	2781	broad.mit.edu	37	22	23465617	23465617	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:23465617G>A	ENST00000248996.4	+	3	1733	c.1067G>A	c.(1066-1068)tGa>tAa	p.*356*	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	0						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGCCTTTGCTGAGGAGCTGGG	0.587000													6	4					0	0	0.021553	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762824	140762824	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140762824G>T	ENST00000518325.1	+	1	358	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCCTATAGACGTGGAAAT	0.418000													60	37					7.50695e-29	1.12516e-28	0.014410	1	0
RNF150	57484	broad.mit.edu	37	4	142053645	142053645	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:142053645G>T	ENST00000306799.3	-	1	971	c.318C>A	c.(316-318)acC>acA	p.T106T	RNF150_ENST00000515673.1_Silent_p.T106T|RNF150_ENST00000507500.1_Silent_p.T106T|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	106	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CGGCGAACTTGGTGTTGGGGT	0.672000													8	10					5.18039e-06	5.67714e-06	0.003080	1	0
CNGB1	1258	broad.mit.edu	37	16	57931410	57931410	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:57931410T>A	ENST00000564448.1	-	31	3175	c.3115A>T	c.(3115-3117)Aac>Tac	p.N1039Y	CNGB1_ENST00000251102.8_Missense_Mutation_p.N1045Y			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1045					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACCACGTTGGCCGTGCGC	0.557000													14	33					0	0	0.028581	0	0
C6	729	broad.mit.edu	37	5	41160245	41160245	+	Splice_Site	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:41160245G>T	ENST00000263413.3	-	11	1947	c.1684_splice	c.e11+1	p.S561_splice	C6_ENST00000337836.5_Splice_Site_p.S561_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	561					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATACTTACTGGATTTATAAT	0.408000													50	94					3.68337e-26	5.4317e-26	0.014410	1	0
JADE1	79960	broad.mit.edu	37	4	129770159	129770159	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:129770159C>T	ENST00000226319.6	+	5	601	c.321C>T	c.(319-321)ctC>ctT	p.L107L	PHF17_ENST00000452328.2_Intron|PHF17_ENST00000511647.1_Silent_p.L107L|PHF17_ENST00000413543.2_Silent_p.L107L|PHF17_ENST00000512960.1_Silent_p.L107L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		107					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGAAATCCCTCATGTTCATCA	0.517000													28	64					0	0	0.010818	0	0
ACKR2	1238	broad.mit.edu	37	3	42906247	42906247	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:42906247C>G	ENST00000422265.1	+	3	428	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	ACKR2_ENST00000273145.2_Missense_Mutation_p.L85V|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.L85V|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TGAGATCTATCTGCTGAATCT	0.537000													53	51					0	0	0.014410	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704494	47704494	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704494C>G	ENST00000397708.1	-	2	961	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R236T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	236					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTAGGTCCTCTCTTCTCTTC	0.393000													22	67					0	0	0.010504	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187036	104187036	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:104187036C>T	ENST00000392876.3	-	9	965	c.925G>A	c.(925-927)Ggg>Agg	p.G309R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	309							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TAACTCATCCCTTTGTCCCTA	0.418000													63	167					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130293227	130293227	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:130293227G>A	ENST00000358511.6	+	7	3436	c.3405G>A	c.(3403-3405)gtG>gtA	p.V1135V	COL6A6_ENST00000453409.2_Silent_p.V1135V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1135	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTACTCCGTGGGCATTGGGG	0.552000													45	28					0	0	0.009718	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351869	89351869	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:89351869C>A	ENST00000301030.4	-	9	1541	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V361L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	361						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGTCGTCCACCGGAGGAACC	0.468000													60	125					1.92745e-42	2.97245e-42	0.014410	1	0
TC2N	123036	broad.mit.edu	37	14	92266697	92266697	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:92266697G>A	ENST00000435962.2	-	5	812	c.489C>T	c.(487-489)aaC>aaT	p.N163N	TC2N_ENST00000340892.5_Silent_p.N163N|TC2N_ENST00000556018.1_Silent_p.N163N|TC2N_ENST00000360594.5_Silent_p.N163N	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	163						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CGGGAAGTTTGTTCGTCCTTA	0.328000													10	28					0	0	0.008291	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439551	99439551	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:99439551G>T	ENST00000397899.2	-	7	1516	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P		NM_207362.2	NP_997245.2			KIAA1211-like																		CGACGTCTTCGGGAGCACAGA	0.731000													8	11					0.00448238	0.00461952	0.004482	1	0
GPR63	81491	broad.mit.edu	37	6	97246760	97246760	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:97246760A>G	ENST00000229955.3	-	2	1193	c.848T>C	c.(847-849)aTa>aCa	p.I283T	GPR63_ENST00000417980.1_Missense_Mutation_p.I283T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	283						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCTGAGGCATATACCTTCAGG	0.473000													47	24					0	0	0.014410	0	0
FEZF2	55079	broad.mit.edu	37	3	62358002	62358002	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:62358002G>C	ENST00000283268.3	-	2	836	c.542C>G	c.(541-543)cCg>cGg	p.P181R	FEZF2_ENST00000486811.1_Missense_Mutation_p.P181R|FEZF2_ENST00000475839.1_Missense_Mutation_p.P181R	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	181					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTCAGACGGCGGGTACGCGGT	0.672000													5	2					0	0	0.014758	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907946	164907946	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164907946T>A	ENST00000475390.1	-	2	1116	c.673A>T	c.(673-675)Atg>Ttg	p.M225L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225						integral to membrane				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						TGGAGCTCCATCAGGCTTCTG	0.438000										HNSCC(40;0.11)			60	80					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432739	25432739	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:25432739G>T	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						TAAAAATCATGCTCAATAGGA	0.488000													111	232					2.09607e-39	3.22472e-39	0.014410	1	0
FAM214B	80256	broad.mit.edu	37	9	35107838	35107838	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:35107838C>T	ENST00000378561.1	-	2	3489	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	FAM214B_ENST00000378557.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000322813.5_Missense_Mutation_p.C145Y|FAM214B_ENST00000378554.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000488109.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000603301.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378566.1_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	145						nucleus											TGATGGGGGGCAGGGGGGACT	0.627000													31	57					0	0	0.012213	0	0
DNAH2	146754	broad.mit.edu	37	17	7734089	7734089	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7734089G>T	ENST00000572933.1	+	79	13619	c.12159G>T	c.(12157-12159)tgG>tgT	p.W4053C	DNAH2_ENST00000389173.2_Missense_Mutation_p.W4053C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4053					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGATGACTGGGACCGGCGCC	0.547000													18	43					3.41278e-10	4.0979e-10	0.004990	1	0
LRPAP1	4043	broad.mit.edu	37	4	3516631	3516631	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3516631T>A	ENST00000500728.2	-	7	1005	c.859A>T	c.(859-861)Aaa>Taa	p.K287*	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	287	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTCTCGATTTTGGCTTCGAAG	0.592000													43	92					0	0	0.014410	0	0
IRX1	79192	broad.mit.edu	37	5	3599662	3599662	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:3599662G>C	ENST00000302006.3	+	2	652	c.600G>C	c.(598-600)caG>caC	p.Q200H	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAAGGACCAGGAAGATGGAG	0.627000													35	56					0	0	0.015359	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197203	26197203	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:26197203C>A	ENST00000377831.5	-	2	729	c.276G>T	c.(274-276)gcG>gcT	p.A92A	HIST1H3D_ENST00000356476.2_Silent_p.A92A	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CCTCCTGCAGCGCCATCACCG	0.587000													31	99					2.08457e-15	2.79105e-15	0.010818	1	0
MUC2	4583	broad.mit.edu	37	11	1078313	1078313	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:1078313C>A	ENST00000441003.2	+	5	627	c.600C>A	c.(598-600)aaC>aaA	p.N200K	MUC2_ENST00000359061.5_Missense_Mutation_p.N200K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	200	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGAAGATCAACCAGCCCGATG	0.662000													27	69					1.7881e-09	2.11531e-09	0.008361	1	0
IFIT5	24138	broad.mit.edu	37	10	91177811	91177811	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:91177811G>A	ENST00000371795.4	+	2	1068	c.855G>A	c.(853-855)ctG>ctA	p.L285L	IFIT5_ENST00000416601.1_Silent_p.L237L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	285							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CTTCTTTCCTGCATCACCAGA	0.423000													33	35					0	0	0.015359	0	0
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:123333078G>A	ENST00000360772.3	-	34	5844	c.5466C>T	c.(5464-5466)tgC>tgT	p.C1822C	MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000346322.5_Silent_p.C1804C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498000													4	156					0	0	0.009096	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723703	7723703	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:7723703C>A	ENST00000303635.7	+	9	1303	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L366I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGCAGCGGGCTCAACAGCGA	0.662000			T	WWTR1	epitheliod hemangioendothelioma								33	60					1.04352e-10	1.26487e-10	0.017118	1	0
NUAK1	9891	broad.mit.edu	37	12	106461453	106461453	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:106461453G>T	ENST00000261402.2	-	7	2492	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	371							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTCTTTCTTGGATTTCTTCA	0.547000													32	68					1.45844e-13	1.88185e-13	0.013726	1	0
FAM118B	79607	broad.mit.edu	37	11	126110725	126110725	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:126110725A>C	ENST00000533050.1	+	4	618	c.125A>C	c.(124-126)gAa>gCa	p.E42A	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.E42A	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AAGCCTCGAGAACTTGTGCTA	0.443000													64	148					0	0	0.014410	0	0
TRO	7216	broad.mit.edu	37	X	54957428	54957428	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:54957428G>T	ENST00000173898.7	+	12	4383	c.4271G>T	c.(4270-4272)gGt>gTt	p.G1424V	TRO_ENST00000375041.2_Missense_Mutation_p.G1027V|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G955V|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1424	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCCAGTCTTGGTGCCTGTGGC	0.567000													9	11					1.11149e-13	1.43708e-13	0.008291	1	0
CNDP1	84735	broad.mit.edu	37	18	72247448	72247448	+	Missense_Mutation	SNP	C	C	G	rs144587048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:72247448C>G	ENST00000582365.1	+	9	1187	c.1121C>G	c.(1120-1122)cCg>cGg	p.P374R	CNDP1_ENST00000358821.3_Missense_Mutation_p.P417R			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGACTACACCCGTGGATTGCA	0.443000													12	36					0	0	0.010729	0	0
ZNF148	7707	broad.mit.edu	37	3	125032301	125032301	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:125032301C>T	ENST00000360647.4	-	4	669	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF148_ENST00000492394.1_Missense_Mutation_p.E62K|ZNF148_ENST00000484491.1_Missense_Mutation_p.E62K|ZNF148_ENST00000485866.1_Missense_Mutation_p.E62K|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	62					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGTAACACTTCATCTGCAGCA	0.443000													96	52					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39425200	39425200	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39425200G>C	ENST00000280481.7	+	10	6913	c.6697G>C	c.(6697-6699)Ggt>Cgt	p.G2233R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2233					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCTGCAGTTGGTGAACAAAA	0.438000													16	24					0	0	0.028581	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740690	94740690	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94740690G>T	ENST00000289495.5	+	2	1731	c.1515G>T	c.(1513-1515)gtG>gtT	p.V505V	PPP1R9A_ENST00000433881.1_Silent_p.V505V|PPP1R9A_ENST00000433360.1_Silent_p.V505V|PPP1R9A_ENST00000456331.2_Silent_p.V505V|PPP1R9A_ENST00000340694.4_Silent_p.V505V|PPP1R9A_ENST00000424654.1_Silent_p.V505V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	505	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTCCCAGTGGAGCTAGAGA	0.373000										HNSCC(28;0.073)			23	46					2.32416e-17	3.17156e-17	0.014323	1	0
PDE1C	5137	broad.mit.edu	37	7	32209472	32209472	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:32209472C>A	ENST00000396193.1	-	3	826	c.233G>T	c.(232-234)cGa>cTa	p.R78L		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTGGGGGTCGAGGGTCATG	0.507000													29	64					1.04594e-18	1.44579e-18	0.025465	1	0
EVI5	7813	broad.mit.edu	37	1	93167773	93167773	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:93167773C>A	ENST00000370331.1	-	5	706		c.e5-1		EVI5_ENST00000543509.1_Splice_Site|EVI5_ENST00000540033.1_Splice_Site	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGAGTAAGCCTAAAAAGTAA	0.303000													15	21					1.05317e-09	1.2482e-09	0.020292	1	0
GPR158	57512	broad.mit.edu	37	10	25885717	25885717	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:25885717G>A	ENST00000376351.3	+	10	2503	c.2145_splice	c.e10+1	p.R715_splice	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	715						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGACATTCGGGTAATGCCA	0.488000													87	63					0	0	0.014410	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751082	19751082	+	Nonsense_Mutation	SNP	G	G	T	rs148928584		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:19751082G>T	ENST00000400113.3	-	4	1145	c.1041C>A	c.(1039-1041)tgC>tgA	p.C347*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	347					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCCAGTTGGGCACCAATCTA	0.527000													13	19					1.15088e-07	1.30135e-07	0.028581	1	0
CYP46A1	10858	broad.mit.edu	37	14	100172989	100172989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:100172989T>A	ENST00000261835.3	+	6	553	c.449T>A	c.(448-450)tTg>tAg	p.L150*	CYP46A1_ENST00000423126.2_Nonsense_Mutation_p.L53*|CYP46A1_ENST00000554176.1_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	150					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCCAGCTCCTTGGTTAGCTTA	0.547000													22	44					0	0	0.021523	0	0
KIT	3815	broad.mit.edu	37	4	55592133	55592133	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55592133A>T	ENST00000288135.5	+	9	1554	c.1457A>T	c.(1456-1458)aAt>aTt	p.N486I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	486	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D479fs*2(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAAGCACAATGGCACGGTT	0.403000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				24	50					0	0	0.016522	0	0
ANO5	203859	broad.mit.edu	37	11	22271793	22271793	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:22271793G>A	ENST00000324559.8	+	10	1206	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	297						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATTATTATGGAGAAAAAAT	0.308000													10	20					0	0	0.016723	0	0
CDH11	1009	broad.mit.edu	37	16	64984725	64984725	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:64984725G>A	ENST00000394156.3	-	12	2292	c.1839C>T	c.(1837-1839)gcC>gcT	p.A613A	CDH11_ENST00000268603.4_Silent_p.A613A|CDH11_ENST00000566827.1_Silent_p.A487A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	613					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCTCAGGCCGGCGTTCAGAA	0.637000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			13	25					0	0	0.016723	0	0
GC	2638	broad.mit.edu	37	4	72622457	72622457	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72622457C>A	ENST00000273951.8	-	8	1349	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	GC_ENST00000513476.1_Missense_Mutation_p.D336Y|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.D355Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	336	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTCCTGGATCACACACATCT	0.453000													8	33					5.18039e-06	5.67714e-06	0.003080	1	0
ABCA13	154664	broad.mit.edu	37	7	48318403	48318403	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48318403A>T	ENST00000435803.1	+	18	7636	c.7612A>T	c.(7612-7614)Aca>Tca	p.T2538S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2538					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAGATGTCCACAGTTTTTAA	0.393000													55	134					0	0	0.014410	0	0
ZNF324	25799	broad.mit.edu	37	19	58983146	58983146	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58983146G>C	ENST00000536459.2	+	4	1996	c.1287G>C	c.(1285-1287)caG>caC	p.Q429H	ZNF324_ENST00000535298.1_Missense_Mutation_p.Q206H|ZNF324_ENST00000196482.3_Missense_Mutation_p.Q429H			O75467	Z324A_HUMAN	zinc finger protein 324	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGCCCACAGTGCGGCCGCG	0.677000													14	31					0	0	0.020292	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731307	45731307	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:45731307G>A	ENST00000413988.1	-	4	258	c.218C>T	c.(217-219)gCa>gTa	p.A73V	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.A73V	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	73										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GATGCGGGGTGCTCGCTCTGT	0.637000													8	26					0	0	0.003080	0	0
SLC17A1	6568	broad.mit.edu	37	6	25830751	25830751	+	Splice_Site	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:25830751C>T	ENST00000244527.4	-	2	150		c.e2+1		SLC17A1_ENST00000476801.1_Splice_Site|SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000468082.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAAAGTGCTACCTTTTTTGGG	0.398000													66	73					0	0	0.014410	0	0
RNF214	257160	broad.mit.edu	37	11	117153235	117153235	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117153235G>A	ENST00000530849.1	+	11	1373	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000300650.4_Missense_Mutation_p.V610M|RNF214_ENST00000531452.1_Missense_Mutation_p.V610M|RNF214_ENST00000531287.1_Missense_Mutation_p.V455M			Q8ND24	RN214_HUMAN	ring finger protein 214	610	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ACATGAGCGGGTGGCAGCAAG	0.522000													14	18					0	0	0.020292	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161246	185161246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:185161246C>T	ENST00000265026.3	+	4	1007	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.Q18*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.Q225*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	225	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTTGTACTCAGGCCCCATG	0.368000													76	35					0	0	0.014410	0	0
BRWD3	254065	broad.mit.edu	37	X	79932626	79932626	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:79932626T>A	ENST00000373275.4	-	41	5107	c.4891A>T	c.(4891-4893)Aca>Tca	p.T1631S		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1631										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGATCTGTTCTGGAAGTT	0.383000													47	36					0	0	0.011902	0	0
RUSC2	9853	broad.mit.edu	37	9	35556330	35556330	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:35556330G>A	ENST00000455600.1	+	5	3437	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	956						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGTTACCACTGACCTGCCCTG	0.542000													27	48					0	0	0.007291	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342902	16342902	+	RNA	SNP	A	A	G	rs11540320		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:16342902A>G	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NR_027667.1																						CAGTCGCTGAAACCTCTACAA	0.478000													51	119					0	0	0.014410	0	0
SORL1	6653	broad.mit.edu	37	11	121475024	121475024	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:121475024G>A	ENST00000260197.7	+	33	4771	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	SORL1_ENST00000525532.1_Missense_Mutation_p.A492T|SORL1_ENST00000532694.1_Missense_Mutation_p.A394T|SORL1_ENST00000534286.1_Missense_Mutation_p.A458T|SORL1_ENST00000527934.1_Missense_Mutation_p.A163T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1548	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGATGAAAAGGCCTGCAGTGG	0.662000													20	37					0	0	0.007413	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749478	41749478	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:41749478G>C	ENST00000226382.2	-	2	676	c.317C>G	c.(316-318)aCc>aGc	p.T106S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	106					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGGCACTGGTGAAAGTGGT	0.572000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	59					0	0	0.014323	0	0
IL16	3603	broad.mit.edu	37	15	81517813	81517813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81517813C>T	ENST00000394660.2	+	2	433	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	IL16_ENST00000302987.4_Missense_Mutation_p.L25F	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	25					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCTGATGCTCTGTAATGC	0.498000													19	50					0	0	0.008871	0	0
PRDM1	639	broad.mit.edu	37	6	106547326	106547326	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:106547326A>T	ENST00000369096.4	+	4	797	c.563A>T	c.(562-564)aAg>aTg	p.K188M	PRDM1_ENST00000369091.2_Missense_Mutation_p.K152M|PRDM1_ENST00000369089.3_Missense_Mutation_p.K54M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	188	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TACACCATTAAGCCCATCCCT	0.502000			"""D, N, Mis, F, S"""		DLBCL								27	30					0	0	0.021523	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835170	27835170	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:27835170C>T	ENST00000331442.3	-	1	189	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	46	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.L46L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTGGTGATCAGCTCTGAGA	0.602000													25	87					0	0	0.018920	0	0
POTEG	404785	broad.mit.edu	37	14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:19553819G>A	ENST00000409832.3	+	1	455	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135								p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGGTACCACGTCCGTCGAGA	0.582000													11	285					0	0	0.018920	0	0
ABCA6	23460	broad.mit.edu	37	17	67136824	67136824	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:67136824G>T	ENST00000284425.2	-	2	195	c.21C>A	c.(19-21)agC>agA	p.S7R	ABCA6_ENST00000590645.1_Missense_Mutation_p.S7R	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	7					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCTGATACACGCTTTTCTGTT	0.333000													23	52					7.87624e-14	1.02247e-13	0.016522	1	0
DNAH8	1769	broad.mit.edu	37	6	38905924	38905924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:38905924C>A	ENST00000359357.3	+	76	11341	c.11087C>A	c.(11086-11088)aCa>aAa	p.T3696K	DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660K					dynein, axonemal, heavy chain 8									p.T3696I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTCATCACAGAGATGAGC	0.522000													52	25					1.21353e-23	1.75319e-23	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82538271	82538271	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:82538271C>A	ENST00000423517.2	-	8	13696	c.13359G>T	c.(13357-13359)ttG>ttT	p.L4453F	PCLO_ENST00000333891.8_Missense_Mutation_p.L4453F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4384	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L4453F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCATTTTCCAAACGAGACT	0.443000													22	58					2.37509e-13	3.05233e-13	0.010504	1	0
NEB	4703	broad.mit.edu	37	2	152563504	152563504	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:152563504T>C	ENST00000397345.3	-	13	1245	c.1043A>G	c.(1042-1044)tAc>tGc	p.Y348C	NEB_ENST00000603639.1_Missense_Mutation_p.Y348C|NEB_ENST00000409198.1_Missense_Mutation_p.Y348C|NEB_ENST00000427231.2_Missense_Mutation_p.Y348C|NEB_ENST00000172853.10_Missense_Mutation_p.Y348C|NEB_ENST00000604864.1_Missense_Mutation_p.Y348C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	348					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTCTTTGTATTTTACCTG	0.373000													5	11					0	0	0.014758	0	0
IRX1	79192	broad.mit.edu	37	5	3599663	3599663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:3599663G>T	ENST00000302006.3	+	2	653	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGACCAGGAAGATGGAGC	0.622000													34	56					1.22384e-17	1.67362e-17	0.013726	1	0
ZNF256	10172	broad.mit.edu	37	19	58453833	58453833	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58453833G>T	ENST00000282308.3	-	3	539	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	115					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		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;0.0155)		TACAGTTTCTGACCATGGTGT	0.473000													42	103					3.66854e-30	5.53742e-30	0.007835	1	0
OR5M3	219482	broad.mit.edu	37	11	56237369	56237369	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56237369C>A	ENST00000312240.2	-	1	645	c.605G>T	c.(604-606)gGc>gTc	p.G202V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGTTAATGCCGGCAAGTAT	0.418000													35	80					1.90571e-15	2.55692e-15	0.019004	1	0
CRHR2	1395	broad.mit.edu	37	7	30706845	30706845	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:30706845T>C	ENST00000471646.1	-	3	731	c.315_splice	c.e3+1	p.K105_splice	CRHR2_ENST00000341843.4_Splice_Site_p.K91_splice|CRHR2_ENST00000348438.4_Splice_Site_p.K132_splice|CRHR2_ENST00000506074.2_Splice_Site_p.K105_splice	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	105					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACTCACCTTGTCATCCAA	0.517000													15	47					0	0	0.020292	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843555	22843555	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:22843555C>G	ENST00000360412.2	-	4	944	c.169G>C	c.(169-171)Gtt>Ctt	p.V57L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.V57L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTTGAAACGACTGGTTTT	0.408000													30	56					0	0	0.006320	0	0
IGHG1	3500	broad.mit.edu	37	14	106208282	106208282	+	RNA	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:106208282G>A	ENST00000390548.2	-	0	617																											CTTTGTTGGAGACCTTGCACT	0.622000													56	180					0	0	0.014410	0	0
GC	2638	broad.mit.edu	37	4	72629169	72629169	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72629169G>C	ENST00000273951.8	-	6	1000	c.657C>G	c.(655-657)gtC>gtG	p.V219V	GC_ENST00000513476.1_Silent_p.V219V|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.V238V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	219	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	ATTGTGAGCAGACTCTATTTG	0.368000													16	39					0	0	0.006122	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848069	48848069	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:48848069A>G	ENST00000394754.1	+	4	2327	c.2213A>G	c.(2212-2214)cAa>cGa	p.Q738R	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.Q34R	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		738					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAGAGGAACAAGTTTTAAAA	0.333000													18	31					0	0	0.012319	0	0
LPHN2	23266	broad.mit.edu	37	1	82416749	82416749	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:82416749A>G	ENST00000370728.1	+	10	2185	c.1540A>G	c.(1540-1542)Aag>Gag	p.K514E	LPHN2_ENST00000370730.1_Missense_Mutation_p.K514E|LPHN2_ENST00000335786.5_Missense_Mutation_p.K514E|LPHN2_ENST00000370713.1_Missense_Mutation_p.K514E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.K514E|LPHN2_ENST00000370721.1_Missense_Mutation_p.K452E|LPHN2_ENST00000370723.1_Missense_Mutation_p.K514E|LPHN2_ENST00000319517.6_Missense_Mutation_p.K514E|LPHN2_ENST00000271029.4_Missense_Mutation_p.K514E|LPHN2_ENST00000370725.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370727.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370715.1_Missense_Mutation_p.K514E|LPHN2_ENST00000394879.1_Missense_Mutation_p.K514E|LPHN2_ENST00000359929.3_Missense_Mutation_p.K514E			O95490	LPHN2_HUMAN	latrophilin 2	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGAACCCTAAGGGCCCCGA	0.438000													29	67					0	0	0.012213	0	0
MAPT	4137	broad.mit.edu	37	17	44068882	44068882	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:44068882G>C	ENST00000344290.5	+	9	1759	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	MAPT_ENST00000334239.8_Missense_Mutation_p.Q104H|MAPT_ENST00000576518.1_Missense_Mutation_p.Q93H|MAPT_ENST00000340799.5_Missense_Mutation_p.Q133H|MAPT_ENST00000431008.3_Missense_Mutation_p.Q162H|MAPT_ENST00000574436.1_Missense_Mutation_p.Q162H|MAPT_ENST00000262410.5_Missense_Mutation_p.Q479H|MAPT_ENST00000571987.1_Missense_Mutation_p.Q479H|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.Q162H|MAPT_ENST00000446361.3_Missense_Mutation_p.Q104H|MAPT_ENST00000420682.2_Missense_Mutation_p.Q133H|MAPT_ENST00000415613.2_Missense_Mutation_p.Q479H|MAPT_ENST00000351559.5_Missense_Mutation_p.Q162H|MAPT_ENST00000347967.5_Missense_Mutation_p.Q68H	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	479					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGGCCAGAAGGGCCAGG	0.542000													37	94					0	0	0.025465	0	0
ART4	420	broad.mit.edu	37	12	14993877	14993877	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14993877G>T	ENST00000228936.4	-	2	736	c.355C>A	c.(355-357)Cac>Aac	p.H119N	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	119					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GCCACAGCGTGTGTGGTAGTC	0.438000													44	87					4.18559e-23	6.01972e-23	0.014410	1	0
THSD7B	80731	broad.mit.edu	37	2	138320906	138320906	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:138320906C>A	ENST00000409968.1	+	16	3432	c.3254C>A	c.(3253-3255)aCa>aAa	p.T1085K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1088K|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1057K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGGAGGAACACAATCTAGG	0.413000													14	30					2.31682e-05	2.4754e-05	0.024245	1	0
FREM2	341640	broad.mit.edu	37	13	39343823	39343823	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39343823G>T	ENST00000280481.7	+	4	5735	c.5519G>T	c.(5518-5520)cGg>cTg	p.R1840L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCGAGTGCGGATCCTGAGT	0.537000													19	21					2.39187e-15	3.18745e-15	0.008871	1	0
GNS	2799	broad.mit.edu	37	12	65130829	65130829	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:65130829T>C	ENST00000258145.3	-	9	1223	c.1053A>G	c.(1051-1053)ccA>ccG	p.P351P	GNS_ENST00000543646.1_Silent_p.P383P|GNS_ENST00000542058.1_Silent_p.P331P|GNS_ENST00000418919.2_Silent_p.P295P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	351						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GAACCAACAGTGGAACTTTGA	0.453000													16	51					0	0	0.028581	0	0
NR2F2	7026	broad.mit.edu	37	15	96875646	96875646	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:96875646G>C	ENST00000394166.3	+	1	1701	c.312G>C	c.(310-312)aaG>aaC	p.K104N	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	104					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTTCTTCAAGCGCAGCGTGC	0.612000													8	28					0	0	0.008291	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647000													62	28					0	0	0.014410	0	0
ARL4D	379	broad.mit.edu	37	17	41477216	41477216	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:41477216A>T	ENST00000320033.4	+	2	323	c.116A>T	c.(115-117)tAc>tTc	p.Y39F		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	39					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCCTCCTTTACCGCCTCAAG	0.592000													20	40					0	0	0.010504	0	0
LEPREL2	10536	broad.mit.edu	37	12	6943184	6943184	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:6943184G>T	ENST00000251761.8	+	0	1462				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CACCCCAGCCGAGTGTGGGGT	0.587000													28	55					1.17739e-12	1.50706e-12	0.027356	1	0
GABRA5	2558	broad.mit.edu	37	15	27160007	27160007	+	Missense_Mutation	SNP	C	C	G	rs140643363	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:27160007C>G	ENST00000335625.5	+	7	1443	c.555C>G	c.(553-555)caC>caG	p.H185Q	GABRA5_ENST00000355395.5_Missense_Mutation_p.H185Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.H185Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	185					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			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)	TGGATGCGCACGCTTGCCCTC	0.433000													17	18					0	0	0.028581	0	0
WDR70	55100	broad.mit.edu	37	5	37727134	37727134	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:37727134C>T	ENST00000265107.4	+	17	2020	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	622										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGGTTTCTCCAGCATATTC	0.383000													68	88					0	0	0.014410	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629432	156629432	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:156629432A>C	ENST00000296518.7	+	5	571	c.362A>C	c.(361-363)cAa>cCa	p.Q121P	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q121P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	121					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTGCAGAGCAAGCAGTTGCA	0.274000													29	56					0	0	0.012213	0	0
ABCA13	154664	broad.mit.edu	37	7	48285513	48285513	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48285513C>A	ENST00000435803.1	+	13	1569	c.1545C>A	c.(1543-1545)gtC>gtA	p.V515V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	515					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGAAGGAGGTCTTTTTGCCGC	0.448000													15	37					6.72482e-11	8.24499e-11	0.024245	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709440	128709440	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:128709440T>A	ENST00000392665.2	-	2	843	c.699A>T	c.(697-699)gtA>gtT	p.V233V	KCNJ1_ENST00000324036.3_Silent_p.V233V|KCNJ1_ENST00000392666.1_Silent_p.V233V|KCNJ1_ENST00000440599.2_Silent_p.V233V|KCNJ1_ENST00000392664.2_Silent_p.V252V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	252					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGCGTCAACTACAAAGTTGA	0.428000													40	92					0	0	0.027894	0	0
TRBV2	28620	broad.mit.edu	37	7	142001214	142001214	+	RNA	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:142001214G>C	ENST00000455382.2	+	0	380																											GGTCCACAAAGCTGGAGGACT	0.463000													10	22					0	0	0.008291	0	0
ZNF90	7643	broad.mit.edu	37	19	20229413	20229413	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:20229413C>A	ENST00000418063.2	+	4	1162	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	350						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCAAAGCCTTCAGGCGCTCCT	0.423000													14	23					6.81908e-15	9.01696e-15	0.020292	1	0
ADSSL1	122622	broad.mit.edu	37	14	105213312	105213312	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:105213312C>T	ENST00000332972.5	+	13	1634	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Missense_Mutation_p.S449L|ADSSL1_ENST00000555674.1_Missense_Mutation_p.S66L|ADSSL1_ENST00000556623.1_Missense_Mutation_p.S55L	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	449					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTTGGCAAGTCAAGAGAGTCG	0.468000													13	57					0	0	0.028581	0	0
EXOC4	60412	broad.mit.edu	37	7	133502223	133502223	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:133502223A>G	ENST00000253861.4	+	11	1689	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	EXOC4_ENST00000545148.1_Missense_Mutation_p.T164A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T453A|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	554					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCACTAAAACATCTGACCC	0.443000													18	23					0	0	0.007413	0	0
ASTN2	23245	broad.mit.edu	37	9	119202971	119202971	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:119202971C>A	ENST00000313400.4	-	22	3799	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	ASTN2_ENST00000361209.2_Silent_p.L1182L|ASTN2_ENST00000341734.4_Silent_p.L285L|ASTN2_ENST00000373996.3_Silent_p.L1229L|ASTN2_ENST00000361477.3_Silent_p.L285L|ASTN2_ENST00000288520.5_Silent_p.L334L			O75129	ASTN2_HUMAN	astrotactin 2	1233						integral to membrane		p.L1182L(1)|p.L285L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGACTCGGAACAGCATCGAGG	0.498000													28	75					3.73808e-20	5.23495e-20	0.027356	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463849	25463849	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:25463849C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GAGGCCCAGCCTGGGGGAGAA	0.532000													75	159					1.43675e-24	2.10417e-24	0.014410	1	0
NPSR1	387129	broad.mit.edu	37	7	34889223	34889223	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:34889223G>A	ENST00000360581.1	+	9	1200	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292K|NPSR1_ENST00000381539.3_Silent_p.*391*|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	358						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAGAACTGAGAGGCATGA	0.488000													40	80					0	0	0.007835	0	0
ARAP2	116984	broad.mit.edu	37	4	36075423	36075423	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:36075423G>C	ENST00000303965.4	-	32	5120	c.4631C>G	c.(4630-4632)cCa>cGa	p.P1544R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1544					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTTCCAGCTGGTGGCCATAT	0.413000													36	67					0	0	0.017118	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170203	20170203	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:20170203C>A	ENST00000338912.5	-	0	68																											CAGACTGCATCAGCTGTACCT	0.552000													24	57					2.44723e-14	3.20948e-14	0.024334	1	0
GNAI3	2773	broad.mit.edu	37	1	110129355	110129355	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:110129355G>A	ENST00000369851.4	+	7	835	c.725G>A	c.(724-726)cGa>cAa	p.R242Q		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	242					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTTCAGAACCGAATGCATGAA	0.318000													16	26					0	0	0.004990	0	0
DYSF	8291	broad.mit.edu	37	2	71839829	71839829	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:71839829G>T	ENST00000258104.3	+	39	4503	c.4226G>T	c.(4225-4227)cGc>cTc	p.R1409L	DYSF_ENST00000410041.1_Missense_Mutation_p.R1427L|DYSF_ENST00000409762.1_Missense_Mutation_p.R1426L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1441L|DYSF_ENST00000394120.2_Missense_Mutation_p.R1410L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1396L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1409L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1440L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1427L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1410L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.R1426L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1409						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGATAACCGCCAGTTTGGC	0.637000													23	52					2.41591e-17	3.28975e-17	0.024334	1	0
FZD7	8324	broad.mit.edu	37	2	202900651	202900651	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:202900651G>A	ENST00000286201.1	+	1	1342	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	427					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGTGCTGGCGCCTCTGTTCG	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	0.009096	0	0
HAS1	3036	broad.mit.edu	37	19	52222623	52222623	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52222623C>A	ENST00000540069.2	-	2	595	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	HAS1_ENST00000222115.1_Missense_Mutation_p.A180S|HAS1_ENST00000594621.1_Missense_Mutation_p.A34S|HAS1_ENST00000601714.1_Missense_Mutation_p.A187S			Q92839	HAS1_HUMAN	hyaluronan synthase 1	180					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGCTccggcgcccaccgcg	0.726000													3	8					0.004672	0.00479949	0.004672	1	0
IGSF9	57549	broad.mit.edu	37	1	159898079	159898079	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:159898079G>A	ENST00000368094.1	-	19	3296	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	IGSF9_ENST00000361509.3_Silent_p.F1017F|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1033						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCGCAGGAACGAAGCGC	0.697000													13	17					0	0	0.016723	0	0
AMER1	139285	broad.mit.edu	37	X	63410293	63410293	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:63410293C>A	ENST00000330258.3	-	2	3146	c.2874G>T	c.(2872-2874)tgG>tgT	p.W958C	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CCCAAGCAGGCCAATCATAGG	0.577000													15	6					4.7546e-09	5.58339e-09	0.028581	1	0
XDH	7498	broad.mit.edu	37	2	31598392	31598392	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:31598392C>A	ENST00000379416.3	-	15	1504	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	486					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.V486M(1)|p.V486L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTGCACACACGTCCTGCAGC	0.637000													18	26					1.67942e-08	1.94012e-08	0.006122	1	0
IQCH	64799	broad.mit.edu	37	15	67757467	67757467	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:67757467G>T	ENST00000335894.4	+	17	2574	c.2508G>T	c.(2506-2508)gtG>gtT	p.V836V	IQCH_ENST00000358767.3_Silent_p.V572V|IQCH_ENST00000546225.1_Silent_p.V493V|IQCH_ENST00000360277.4_Silent_p.V497V|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTAATCAGGTGTGGGCAACCG	0.517000													21	43					9.57634e-11	1.1674e-10	0.018920	1	0
PLXNA3	55558	broad.mit.edu	37	X	153689091	153689091	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153689091G>A	ENST00000369682.3	+	2	743	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	190	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.E190K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGTGATGAAGACAGCGC	0.597000													29	18					0	0	0.006320	0	0
FAM73A	374986	broad.mit.edu	37	1	78332059	78332059	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:78332059A>T	ENST00000370791.3	+	14	1578	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K478*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	516						integral to membrane		p.R517fs*19(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGAAACAGAAAAGACAACA	0.353000													28	69					0	0	0.009535	0	0
SYNE1	23345	broad.mit.edu	37	6	152631122	152631122	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152631122G>A	ENST00000367255.5	-	90	17651	c.17050C>T	c.(17050-17052)Ccg>Tcg	p.P5684S	SYNE1_ENST00000265368.4_Missense_Mutation_p.P5684S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5296S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P208S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5613S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5613S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5684					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACCTTCGGCTTCAGTGAC	0.453000										HNSCC(10;0.0054)			30	19					0	0	0.012213	0	0
TAAR9	134860	broad.mit.edu	37	6	132859539	132859539	+	RNA	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132859539C>T	ENST00000434551.1	+	0	111					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCCTCTACGCCGTCCTTGGTT	0.478000													33	17					0	0	0.012213	0	0
MSC	9242	broad.mit.edu	37	8	72756070	72756070	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72756070C>T	ENST00000325509.4	-	1	633	c.344G>A	c.(343-345)cGt>cAt	p.R115H	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	115					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCACGCTCACGGGCGTTGGC	0.692000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	0.021553	0	0
WDR60	55112	broad.mit.edu	37	7	158718989	158718989	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:158718989A>T	ENST00000407559.3	+	18	2527	c.2369A>T	c.(2368-2370)gAa>gTa	p.E790V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	790										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTACTCAAGAAGGTACGTGA	0.388000													6	12					0	0	0.021553	0	0
CEP170	9859	broad.mit.edu	37	1	243289810	243289810	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:243289810T>C	ENST00000366542.1	-	20	4747	c.4696A>G	c.(4696-4698)Ata>Gta	p.I1566V	CEP170_ENST00000490813.1_Missense_Mutation_p.I275V|CEP170_ENST00000366544.1_Missense_Mutation_p.I1468V|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366543.1_Missense_Mutation_p.I1442V|CEP170_ENST00000481987.1_Missense_Mutation_p.I302V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1566	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGAAATGTATACTGAAATCA	0.438000													9	16					0	0	0.008291	0	0
PRKD1	5587	broad.mit.edu	37	14	30194823	30194823	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:30194823G>A	ENST00000331968.5	-	2	551	c.322C>T	c.(322-324)Cct>Tct	p.P108S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P108S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	108					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGAGGTAGGGTCATGGCGA	0.413000													16	45					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168099600	168099600	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:168099600G>T	ENST00000409195.1	+	9	1787	c.1698G>T	c.(1696-1698)tgG>tgT	p.W566C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W344C|XIRP2_ENST00000295237.9_Missense_Mutation_p.W566C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	391					actin cytoskeleton organization	cell junction	actin binding	p.W566*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTGGAATGGGATGAAATTC	0.403000													13	25					1.49906e-05	1.60973e-05	0.020292	1	0
DSCAM	1826	broad.mit.edu	37	21	41505903	41505903	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:41505903T>A	ENST00000400454.1	-	19	3917	c.3440A>T	c.(3439-3441)cAg>cTg	p.Q1147L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1147	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGTGAAGGCTGTGTGGTGGT	0.532000													18	38					0	0	0.008871	0	0
NUTM1	256646	broad.mit.edu	37	15	34640812	34640812	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:34640812A>T	ENST00000537011.1	+	3	1125	c.743A>T	c.(742-744)tAc>tTc	p.Y248F	NUTM1_ENST00000438749.3_Missense_Mutation_p.Y238F|NUTM1_ENST00000333756.4_Missense_Mutation_p.Y220F					NUT midline carcinoma, family member 1																		TGGCAGCGTTACAAAGCCTTG	0.512000													33	33					0	0	0.012213	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411241	105411241	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:105411241A>C	ENST00000333244.5	-	7	10666	c.10547T>G	c.(10546-10548)cTc>cGc	p.L3516R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3516						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTGGCCTTGAGGTCCCCCTG	0.667000													49	125					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240601394	240601394	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240601394A>T	ENST00000319653.9	+	16	5174	c.4944A>T	c.(4942-4944)aaA>aaT	p.K1648N	FMN2_ENST00000545751.1_Missense_Mutation_p.K244N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1648	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			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)			TCTTCATGAAACCAAAACTTG	0.383000													38	76					0	0	0.027894	0	0
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:51254950G>A	ENST00000404971.1	-	2	1801	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F|NRXN1_ENST00000405581.1_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662000													5	21					0	0	0.021553	0	0
USH2A	7399	broad.mit.edu	37	1	215901506	215901506	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:215901506C>G	ENST00000366943.2	-	61	12318	c.11932G>C	c.(11932-11934)Gct>Cct	p.A3978P	USH2A_ENST00000307340.3_Missense_Mutation_p.A3978P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3978	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGAATGAGCACTCGTGGCT	0.488000										HNSCC(13;0.011)			37	63					0	0	0.023175	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502039	90502039	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:90502039C>T	ENST00000325643.5	+	4	2703	c.2637C>T	c.(2635-2637)gcC>gcT	p.A879A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCCCTGGGCCTCCTGGGTAT	0.557000													15	21					0	0	0.020292	0	0
GRM5	2915	broad.mit.edu	37	11	88258477	88258477	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:88258477C>A	ENST00000418177.2	-	9	3093	c.2726_splice	c.e9+1	p.S909_splice	GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Splice_Site_p.S909_splice|GRM5_ENST00000455756.2_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	909					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTTTGCTTACCTGCTCATTGT	0.507000													73	191					2.37984e-18	3.27548e-18	0.014410	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432538	117432538	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117432538G>T	ENST00000160373.3	-	4	803	c.712C>A	c.(712-714)Cgg>Agg	p.R238R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	238										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCTGTTCCCGCTCAGTGTCA	0.453000													13	39					2.27111e-07	2.559e-07	0.013537	1	0
BPI	671	broad.mit.edu	37	20	36952317	36952317	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:36952317C>T	ENST00000262865.4	+	8	903	c.814C>T	c.(814-816)Cca>Tca	p.P272S	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	272					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCCTTTGCTCCACCAGTGAT	0.522000													23	45					0	0	0.016522	0	0
PRSS36	146547	broad.mit.edu	37	16	31160510	31160510	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:31160510G>T	ENST00000268281.4	-	4	214	c.156C>A	c.(154-156)aaC>aaA	p.N52K	PRSS36_ENST00000418068.2_Missense_Mutation_p.N52K|PRSS36_ENST00000569305.1_Missense_Mutation_p.N52K	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	52	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCGGCTGCGCGTTTGAGCCCC	0.701000													4	9					0.014758	0.015088	0.014758	1	0
ZNF831	128611	broad.mit.edu	37	20	57769304	57769304	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:57769304G>T	ENST00000371030.2	+	1	3230	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1077						intracellular	nucleic acid binding|zinc ion binding			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)					CGTATCCATCGCCTCTGCATG	0.637000													10	32					1.76689e-08	2.03383e-08	0.006214	1	0
CFTR	1080	broad.mit.edu	37	7	117267811	117267811	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117267811G>T	ENST00000003084.6	+	22	3836	c.3704G>T	c.(3703-3705)aGt>aTt	p.S1235I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.S1174I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1235	ABC transporter 2.		S -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTCTCAATAAGTCCTGGCCAG	0.438000									Cystic Fibrosis				11	43					0.00136819	0.0014192	0.013537	1	0
TRPC7	57113	broad.mit.edu	37	5	135692763	135692763	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135692763G>A	ENST00000513104.1	-	2	595	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	TRPC7_ENST00000355180.3_Missense_Mutation_p.R105W|TRPC7_ENST00000426057.2_Missense_Mutation_p.R105W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	105					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R105W(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCCCACCCGTGCCAGGTTC	0.652000													37	21					0	0	0.017118	0	0
DNAH7	56171	broad.mit.edu	37	2	196674504	196674504	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196674504A>C	ENST00000312428.6	-	52	9953	c.9853T>G	c.(9853-9855)Tgt>Ggt	p.C3285G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3285					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGTTAGACAAAAGGAAAAG	0.368000													19	31					0	0	0.010504	0	0
TNS3	64759	broad.mit.edu	37	7	47408232	47408232	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47408232C>T	ENST00000398879.1	-	17	2377	c.2011G>A	c.(2011-2013)Gga>Aga	p.G671R	TNS3_ENST00000311160.9_Missense_Mutation_p.G671R|TNS3_ENST00000355730.3_Missense_Mutation_p.G431R			Q68CZ2	TENS3_HUMAN	tensin 3	671						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCTGGTCTCCTGGAAACCTG	0.632000													60	113					0	0	0.014410	0	0
ZNF430	80264	broad.mit.edu	37	19	21205625	21205625	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:21205625A>T	ENST00000261560.5	+	2	215	c.34A>T	c.(34-36)Aag>Tag	p.K12*	ZNF430_ENST00000599548.1_Nonsense_Mutation_p.K12*|ZNF430_ENST00000595401.1_Nonsense_Mutation_p.K12*	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTATCCTCTCAAGGAAGCAAG	0.448000													33	74					0	0	0.013726	0	0
EYA1	2138	broad.mit.edu	37	8	72229917	72229917	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72229917C>G	ENST00000340726.3	-	7	1065	c.426G>C	c.(424-426)ttG>ttC	p.L142F	EYA1_ENST00000388741.2_Missense_Mutation_p.L108F|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.L141F|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.L109F|EYA1_ENST00000388742.4_Missense_Mutation_p.L142F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	142					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCTGCCCACAATGCACCTA	0.423000													37	96					0	0	0.027894	0	0
SYNE1	23345	broad.mit.edu	37	6	152605236	152605236	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152605236C>G	ENST00000367255.5	-	96	18685	c.18084G>C	c.(18082-18084)ctG>ctC	p.L6028L	SYNE1_ENST00000265368.4_Silent_p.L6028L|SYNE1_ENST00000341594.5_Silent_p.L5640L|SYNE1_ENST00000356820.4_Silent_p.L552L|SYNE1_ENST00000423061.1_Silent_p.L5957L|SYNE1_ENST00000448038.1_Silent_p.L5957L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6028					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCGGATACCAGCTCCTCTG	0.542000										HNSCC(10;0.0054)			35	25					0	0	0.017118	0	0
KRT6C	286887	broad.mit.edu	37	12	52862855	52862855	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:52862855G>A	ENST00000252250.6	-	9	1733	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	562	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			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)		TTTAGTGCTTGTAGCTCTTCC	0.612000													4	50					0	0	0.009096	0	0
SLC41A2	84102	broad.mit.edu	37	12	105321903	105321903	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:105321903T>G	ENST00000258538.3	-	1	530	c.403A>C	c.(403-405)Ata>Cta	p.I135L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	135						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCACTAGATATATCTTCATCT	0.393000													34	75					0	0	0.017118	0	0
WSCD2	9671	broad.mit.edu	37	12	108603974	108603974	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:108603974G>C	ENST00000332082.4	+	5	1392	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	WSCD2_ENST00000549903.1_Missense_Mutation_p.E192Q|WSCD2_ENST00000261400.3_Missense_Mutation_p.E192Q|WSCD2_ENST00000547525.1_Missense_Mutation_p.E192Q			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	192	WSC 1.					integral to membrane		p.E192K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACGTGAGCGAGGCAGAGTG	0.677000													8	26					0	0	0.004482	0	0
DLC1	10395	broad.mit.edu	37	8	12957730	12957730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:12957730C>T	ENST00000276297.4	-	9	2525	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	DLC1_ENST00000512044.2_Missense_Mutation_p.E303K|DLC1_ENST00000358919.2_Missense_Mutation_p.E269K|DLC1_ENST00000520226.1_Missense_Mutation_p.E195K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	706					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			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						TTCAGCTTCTCCTCATCCATC	0.567000													21	33					0	0	0.010504	0	0
FCHO1	23149	broad.mit.edu	37	19	17887482	17887482	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:17887482C>G	ENST00000594202.1	+	18	1525	c.1246C>G	c.(1246-1248)Ccc>Gcc	p.P416A	FCHO1_ENST00000389133.4_Missense_Mutation_p.P416A|FCHO1_ENST00000252771.7_Missense_Mutation_p.P416A|FCHO1_ENST00000600676.1_Missense_Mutation_p.P416A|FCHO1_ENST00000595033.1_Missense_Mutation_p.P366A|FCHO1_ENST00000596536.1_Missense_Mutation_p.P416A|FCHO1_ENST00000596951.1_Missense_Mutation_p.P416A|FCHO1_ENST00000597512.1_Missense_Mutation_p.P423A|FCHO1_ENST00000539407.1_Missense_Mutation_p.P416A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	416										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCGGTCTGCCCCCAGAACCAG	0.637000													13	41					0	0	0.013537	0	0
ANK2	287	broad.mit.edu	37	4	114214656	114214656	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:114214656C>A	ENST00000357077.4	+	22	2490	c.2437C>A	c.(2437-2439)Ctg>Atg	p.L813M	ANK2_ENST00000509550.1_Missense_Mutation_p.L22M|ANK2_ENST00000394537.3_Missense_Mutation_p.L813M|ANK2_ENST00000506722.1_Missense_Mutation_p.L792M|ANK2_ENST00000264366.6_Missense_Mutation_p.L813M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	813					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGTCGACACCCTGAAGGTTGT	0.478000													17	26					5.3912e-06	5.87797e-06	0.006122	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898559	112898559	+	Silent	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112898559T>G	ENST00000374530.3	+	8	915	c.735T>G	c.(733-735)ccT>ccG	p.P245P	AKAP2_ENST00000510514.5_Silent_p.P245P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P245P|AKAP2_ENST00000259318.7_Silent_p.P14P|AKAP2_ENST00000434623.2_Silent_p.P103P|AKAP2_ENST00000555236.1_Silent_p.P245P|AKAP2_ENST00000374525.1_Silent_p.P103P	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		14							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAAGTGTTCCTGGAATCACCT	0.502000													31	88					0	0	0.019004	0	0
KCNIP4	80333	broad.mit.edu	37	4	21305453	21305453	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:21305453C>A	ENST00000382150.4	-	1	159	c.77G>T	c.(76-78)gGg>gTg	p.G26V	KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000509207.1_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TTCAATCAGCCCAAACTGTTC	0.398000													8	37					0.000157383	0.00016594	0.003080	1	0
OR11A1	26531	broad.mit.edu	37	6	29394860	29394860	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:29394860C>A	ENST00000377149.1	-	5	1031	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.G187C|OR11A1_ENST00000377147.2_Missense_Mutation_p.G187C			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAGCCAGGCCCACGAAAAGC	0.507000													21	14					2.89027e-11	3.57099e-11	0.014323	1	0
AGBL1	123624	broad.mit.edu	37	15	86790944	86790944	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:86790944G>C	ENST00000441037.2	+	6	526	c.431G>C	c.(430-432)aGc>aCc	p.S144T	AGBL1_ENST00000421325.2_Missense_Mutation_p.S144T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	144					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACGTCACCAGCCTGCTCGGG	0.612000													12	11					0	0	0.010729	0	0
SCN1A	6323	broad.mit.edu	37	2	166850763	166850763	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:166850763A>G	ENST00000423058.2	-	25	4762	c.4745T>C	c.(4744-4746)gTg>gCg	p.V1582A	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1554A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1571A|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1582A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1582						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTAAATAGCACAATGAACAC	0.378000													12	33					0	0	0.013537	0	0
ADCY1	107	broad.mit.edu	37	7	45697343	45697343	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:45697343C>A	ENST00000297323.7	+	6	1188	c.1166C>A	c.(1165-1167)aCc>aAc	p.T389N	ADCY1_ENST00000432715.1_Missense_Mutation_p.T164N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	389					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTGAAGCCACCGAGGTGGAT	0.607000													5	15					1.23904e-05	1.33275e-05	0.014758	1	0
PUS7	54517	broad.mit.edu	37	7	105111200	105111200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:105111200C>A	ENST00000356362.2	-	11	1547	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.E445*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	445	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGCTGCCCTTCCACACACCTT	0.453000													56	89					2.17126e-26	3.20925e-26	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179577472	179577472	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179577472T>A	ENST00000589042.1	-	94	27504	c.27280A>T	c.(27280-27282)Agc>Tgc	p.S9094C	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8777C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8777	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCATTGCTAACTATGCAA	0.393000													25	69					0	0	0.016522	0	0
COL22A1	169044	broad.mit.edu	37	8	139833498	139833498	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139833498C>A	ENST00000303045.6	-	7	1572	c.1126G>T	c.(1126-1128)Gtc>Ttc	p.V376F	COL22A1_ENST00000435777.1_Missense_Mutation_p.V376F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	376	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCAGGGAGACGTTCTGGGCC	0.562000										HNSCC(7;0.00092)			21	45					4.96729e-08	5.6769e-08	0.008871	1	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7578463C>G	ENST00000420246.2	-	5	599	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000269305.4_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612000		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)			17	43					0	0	0.004990	0	0
CC2D1B	200014	broad.mit.edu	37	1	52826198	52826198	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:52826198G>A	ENST00000438831.1	-	0	638				CC2D1B_ENST00000371586.2_Silent_p.H167H|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.H167H			Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGCAAAGCGTGTAGCCCCT	0.632000													11	23					0	0	0.010729	0	0
FLG	2312	broad.mit.edu	37	1	152284331	152284331	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:152284331C>G	ENST00000368799.1	-	3	3066	c.3031G>C	c.(3031-3033)Gag>Cag	p.E1011Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1011	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCGTGAGGA	0.582000									Ichthyosis				138	260					0	0	0.014410	0	0
SGMS1	259230	broad.mit.edu	37	10	52103623	52103623	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:52103623G>A	ENST00000361781.2	-	7	1211	c.252C>T	c.(250-252)caC>caT	p.H84H	SGMS1_ENST00000361543.2_Silent_p.H84H|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	90					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGTTGAGGTGCCCATTGG	0.512000													22	54					0	0	0.010504	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079494	38079494	+	Missense_Mutation	SNP	G	G	A	rs139204234	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:38079494G>A	ENST00000394169.1	-	5	1691	c.197C>T	c.(196-198)aCg>aTg	p.T66M	ORMDL3_ENST00000579695.1_Missense_Mutation_p.T66M|ORMDL3_ENST00000584220.1_Missense_Mutation_p.T50M|ORMDL3_ENST00000304046.2_Missense_Mutation_p.T66M			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	66					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCCCTTCACCGTGTGCAGGAA	0.582000													39	120					0	0	0.025465	0	0
CWC22	57703	broad.mit.edu	37	2	180851515	180851515	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180851515C>G	ENST00000410053.3	-	4	412	c.113G>C	c.(112-114)cGa>cCa	p.R38P	CWC22_ENST00000295749.6_Missense_Mutation_p.R38P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	38	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CCGGGGGGATCGTTCTTGTTC	0.343000													18	17					0	0	0.006122	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893875	32893875	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:32893875C>A	ENST00000330048.5	-	0	1382					NR_003083.2																						TGACAGGGGACTGGCGGTCAG	0.612000													20	78					2.61193e-14	3.4115e-14	0.009535	1	0
BAGE2	85319	broad.mit.edu	37	21	11039216	11039216	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:11039216G>T	ENST00000470054.1	-	0	987									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGAGGCCTTGATTCTTCTTT	0.428000													22	266					9.95505e-16	1.33849e-15	0.014323	1	0
MUC16	94025	broad.mit.edu	37	19	9070007	9070007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9070007C>G	ENST00000397910.4	-	3	17642	c.17439G>C	c.(17437-17439)gaG>gaC	p.E5813D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5815	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGAGACCTCAGTAGTAG	0.493000													21	75					0	0	0.008871	0	0
TPD52	7163	broad.mit.edu	37	8	80976829	80976829	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:80976829C>A	ENST00000379096.5	-	2	134		c.e2-1		TPD52_ENST00000519303.2_Splice_Site|TPD52_ENST00000379097.3_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000537855.1_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000517427.1_Splice_Site	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCAGACCTGGTTGGGGA	0.463000													40	81					8.69298e-16	1.17126e-15	0.027894	1	0
CSMD3	114788	broad.mit.edu	37	8	113668416	113668416	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113668416G>T	ENST00000297405.5	-	18	3215	c.2971C>A	c.(2971-2973)Cgt>Agt	p.R991S	CSMD3_ENST00000455883.2_Missense_Mutation_p.R887S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R951S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R991S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	991	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTGGAACGACTGTTGTCT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	70					4.7796e-09	5.59222e-09	0.024334	1	0
OR2T27	403239	broad.mit.edu	37	1	248813780	248813780	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248813780T>A	ENST00000344889.3	-	1	405	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCGGCTCATGAGGACAGGA	0.557000													20	48					0	0	0.027356	0	0
HECW2	57520	broad.mit.edu	37	2	197092955	197092955	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:197092955C>A	ENST00000260983.2	-	22	3970	c.3788G>T	c.(3787-3789)aGa>aTa	p.R1263I	HECW2_ENST00000409111.1_Missense_Mutation_p.R907I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1263	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAAAACTCTCTAGAAGGCCC	0.363000													20	29					8.10497e-08	9.21347e-08	0.010504	1	0
DDHD2	23259	broad.mit.edu	37	8	38095108	38095108	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:38095108C>G	ENST00000397166.2	+	4	989	c.464C>G	c.(463-465)tCt>tGt	p.S155C	DDHD2_ENST00000520272.2_Missense_Mutation_p.S155C	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	155					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AAACTGGAATCTCCCAACAGA	0.328000													7	14					0	0	0.003080	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809959	41809959	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:41809959A>T	ENST00000392006.3	+	13	2228	c.2055A>T	c.(2053-2055)agA>agT	p.R685S	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R596S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R571S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R685S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	685	Asn-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAACAACAGAGGCAGCTACA	0.612000													37	56					0	0	0.025465	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535075	33535075	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:33535075C>A	ENST00000504830.1	-	23	4804	c.4469G>T	c.(4468-4470)gGc>gTc	p.G1490V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1405V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1490	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTCTGAAAGCCACCTCCACA	0.493000										HNSCC(64;0.19)			32	44					1.56442e-22	2.23488e-22	0.012213	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529964	80529964	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:80529964C>T	ENST00000295057.3	-	2	1637	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S327S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	327	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGTTGAGCCACGAGGCTAGGG	0.637000										HNSCC(69;0.2)			7	17					0	0	0.001984	0	0
CNGA3	1261	broad.mit.edu	37	2	98999860	98999860	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:98999860C>T	ENST00000393504.1	+	5	822	c.405C>T	c.(403-405)ccC>ccT	p.P135P	CNGA3_ENST00000409937.1_Silent_p.P139P|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.P135P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	135					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCGCCTGGCCCCTGGCCAAAT	0.597000													9	39					0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	99941252	99941252	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99941252C>G	ENST00000524871.1	+	11	1549	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	CNTN5_ENST00000528682.1_Missense_Mutation_p.T420R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T420R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T420R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T346R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCCAGACCCACGTATCGTTGG	0.478000													16	30					0	0	0.006122	0	0
DIAPH3	81624	broad.mit.edu	37	13	60590252	60590252	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:60590252C>T	ENST00000400324.4	-	6	874	c.654G>A	c.(652-654)ggG>ggA	p.G218G	DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400319.1_Silent_p.G148G|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000377908.2_Silent_p.G207G|DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	218	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.G218G(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAATCCAAGCCCTTCATGTC	0.313000													7	15					0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	50450211	50450211	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:50450211G>A	ENST00000442544.2	+	4	1448	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	DCC_ENST00000412726.1_Missense_Mutation_p.E126K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	278	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACGAGGCGAGGAAGTCATCCA	0.368000													41	48					0	0	0.010771	0	0
RASAL1	8437	broad.mit.edu	37	12	113543582	113543582	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113543582G>A	ENST00000546530.1	-	17	2055	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F588F|RASAL1_ENST00000261729.5_Silent_p.F588F|RASAL1_ENST00000548055.1_Silent_p.F589F	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	588	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCGCTTCTTGAAGGCAAAGC	0.637000													31	54					0	0	0.010818	0	0
USH2A	7399	broad.mit.edu	37	1	216019335	216019335	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:216019335A>T	ENST00000366943.2	-	45	9272	c.8886T>A	c.(8884-8886)ctT>ctA	p.L2962L	USH2A_ENST00000307340.3_Silent_p.L2962L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2962	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACTCCAAAAAAGTGTGTAAT	0.398000										HNSCC(13;0.011)			11	26					0	0	0.016723	0	0
SNORD114-26	767606	broad.mit.edu	37	14	101453434	101453434	+	RNA	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:101453434G>C	ENST00000363543.1	+	0	52					NR_003219.1																						ATGAATACGTGTCTGGAACTC	0.378000													25	86					0	0	0.027356	0	0
PXDNL	137902	broad.mit.edu	37	8	52287228	52287228	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:52287228A>G	ENST00000356297.4	-	18	3721	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	PXDNL_ENST00000543296.1_Silent_p.P1207P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1207					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCTTGTACCAGGAATCAGGT	0.483000													12	39					0	0	0.013537	0	0
KCNH2	3757	broad.mit.edu	37	7	150644574	150644574	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:150644574G>A	ENST00000392968.2	-	11	3826	c.2706C>T	c.(2704-2706)ttC>ttT	p.F902F	KCNH2_ENST00000330883.4_Silent_p.F658F|KCNH2_ENST00000262186.5_Silent_p.F998F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	998					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCCAGAAGCTGAAAATGTTGG	0.692000													5	11					0	0	0.021553	0	0
KIAA2013	90231	broad.mit.edu	37	1	11982754	11982754	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:11982754A>C	ENST00000376572.3	-	2	2011	c.1826T>G	c.(1825-1827)cTc>cGc	p.L609R	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L609R	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	609						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTTGAAGAGGAAGAGGTG	0.597000													10	20					0	0	0.010729	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55443753	55443753	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:55443753G>T	ENST00000398661.2	-	1	232	c.101C>A	c.(100-102)cCc>cAc	p.P34H	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P34H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000358072.5_Missense_Mutation_p.P34H	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	34							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCTGCGCGGGGTCGAGCGC	0.647000													5	3					1.024e-07	1.16199e-07	0.014758	1	0
NFAT5	10725	broad.mit.edu	37	16	69727108	69727108	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:69727108C>G	ENST00000349945.1	+	14	4650	c.3098C>G	c.(3097-3099)tCt>tGt	p.S1033C	NFAT5_ENST00000354436.2_Missense_Mutation_p.S1109C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S1126C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1127C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1033C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1033C	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1109					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAACCTCCTCTGAACAAATG	0.438000													35	122					0	0	0.017118	0	0
C1orf173	127254	broad.mit.edu	37	1	75097586	75097586	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:75097586C>A	ENST00000326665.5	-	7	848	c.630G>T	c.(628-630)agG>agT	p.R210S	C1orf173_ENST00000420661.2_Missense_Mutation_p.R13S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	210										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTATGGAGTTCCTGAACTTCA	0.393000													39	51					1.47244e-24	2.15152e-24	0.025465	1	0
ZNF761	388561	broad.mit.edu	37	19	53960016	53960016	+	RNA	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:53960016G>C	ENST00000454407.1	+	0	2708							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGTGGTGAGGTTTTTAATCA	0.388000													6	70					0	0	0.021553	0	0
CT45A1	541466	broad.mit.edu	37	X	134856764	134856764	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:134856764A>T	ENST00000370741.3	+	5	784	c.539A>T	c.(538-540)cAc>cTc	p.H180L	CT45A1_ENST00000482795.1_3'UTR	NM_001017417.1	NP_001017417.1	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	180																	TTTGTTAAGCACCTTAAGAAG	0.383000													19	406					0	0	0.007291	0	0
TCAIM	285343	broad.mit.edu	37	3	44449031	44449031	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44449031G>C	ENST00000342649.4	+	11	1775	c.1348G>C	c.(1348-1350)Gtg>Ctg	p.V450L	TCAIM_ENST00000417237.1_Missense_Mutation_p.V450L	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TATACAAATGGTGGATTGTTG	0.358000													19	28					0	0	0.007413	0	0
TRPA1	8989	broad.mit.edu	37	8	72951141	72951141	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72951141T>A	ENST00000262209.4	-	19	2461	c.2254A>T	c.(2254-2256)Atc>Ttc	p.I752F	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	752						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTCATTGATGATGCCAGTT	0.299000													26	46					0	0	0.018920	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190344	57190344	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:57190344A>G	ENST00000504228.1	+	8	3558	c.3453A>G	c.(3451-3453)ccA>ccG	p.P1151P	KIAA1211_ENST00000541073.1_Silent_p.P1144P|KIAA1211_ENST00000264229.6_Silent_p.P1151P			Q6ZU35	K1211_HUMAN	KIAA1211	1151										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGCTCTGCCAGAAGAGAAGA	0.572000													16	37					0	0	0.006122	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894539	47894539	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47894539C>G	ENST00000289672.2	-	30	4850	c.4800G>C	c.(4798-4800)caG>caC	p.Q1600H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1600					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAATTTCTATCTGTAGAGATT	0.398000													31	63					0	0	0.010818	0	0
OR8U1	219417	broad.mit.edu	37	11	56143839	56143839	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56143839C>T	ENST00000302270.1	+	1	740	c.740C>T	c.(739-741)gCa>gTa	p.A247V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CACATGCTGGCAGTCACCATA	0.488000													34	69					0	0	0.010818	0	0
PLCL2	23228	broad.mit.edu	37	3	17052928	17052928	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:17052928G>C	ENST00000418129.2	+	2	2177	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	PLCL2_ENST00000396755.2_Missense_Mutation_p.C571S|PLCL2_ENST00000432376.1_Missense_Mutation_p.C571S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	697					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAATGTGGTTGCCAAATTGTA	0.418000													29	31					0	0	0.007291	0	0
OR1L1	26737	broad.mit.edu	37	9	125424532	125424532	+	Missense_Mutation	SNP	G	G	T	rs142065229		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:125424532G>T	ENST00000373686.1	+	1	688	c.688G>T	c.(688-690)Gat>Tat	p.D230Y				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTTTTTCTGCGATGATCAACC	0.428000													59	123					4.96213e-28	7.40272e-28	0.014410	1	0
FZD5	7855	broad.mit.edu	37	2	208632914	208632914	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:208632914C>A	ENST00000295417.3	-	2	1103	c.550G>T	c.(550-552)Gct>Tct	p.A184S		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	184					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGGCCCCCAGCGGGGCATTCG	0.711000													12	11					4.36969e-10	5.22729e-10	0.016723	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555173	44555173	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:44555173G>A	ENST00000330682.2	-	1	1276	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	347	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGTCCGGATTGTTCCTAGGCA	0.647000													43	1066					0	0	0.006320	0	0
ACTR5	79913	broad.mit.edu	37	20	37378668	37378668	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:37378668C>T	ENST00000243903.4	+	2	428	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	131					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGTTGATCATCCCATAGTTTT	0.413000													23	55					0	0	0.021523	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924289	45924289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:45924289G>A	ENST00000395629.2	+	5	1271	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R324Q			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	324					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACGGCAGGGCGGCCGCACCCC	0.711000													7	10					0	0	0.001984	0	0
TRIM60	166655	broad.mit.edu	37	4	165962140	165962140	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:165962140C>A	ENST00000512596.1	+	3	1132	c.916C>A	c.(916-918)Cct>Act	p.P306T	TRIM60_ENST00000341062.5_Missense_Mutation_p.P306T|TRIM60_ENST00000508504.1_Missense_Mutation_p.P306T	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	306	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGCACATCCTCAACTTCT	0.383000													36	77					9.45814e-24	1.3695e-23	0.021022	1	0
SOX7	83595	broad.mit.edu	37	8	10583781	10583781	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:10583781C>A	ENST00000304501.1	-	2	712	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOX7_ENST00000554914.1_Missense_Mutation_p.V264L|SOX7_ENST00000553390.1_Missense_Mutation_p.V264L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	212					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCTCCAGCACGTCCAGGGGA	0.701000													17	25					7.07596e-05	7.49771e-05	0.006122	1	0
FPR2	2358	broad.mit.edu	37	19	52272136	52272136	+	Silent	SNP	G	G	C	rs147854636		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52272136G>C	ENST00000598776.1	+	2	997	c.225G>C	c.(223-225)acG>acC	p.T75T	FPR2_ENST00000340023.6_Silent_p.T75T|FPR2_ENST00000598953.1_Silent_p.T75T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	75					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTTCTTTCACGGCCACATTAC	0.512000													28	88					0	0	0.027356	0	0
RYR1	6261	broad.mit.edu	37	19	38948913	38948913	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:38948913T>A	ENST00000355481.4	+	18	2279	c.2148T>A	c.(2146-2148)gaT>gaA	p.D716E	RYR1_ENST00000360985.3_Missense_Mutation_p.D716E|RYR1_ENST00000359596.3_Missense_Mutation_p.D716E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	716	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGCTTTGATGGACTGCATC	0.632000													23	79					0	0	0.016522	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127963	117127963	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:117127963C>A	ENST00000310357.3	-	3	926	c.905G>T	c.(904-906)aGt>aTt	p.S302I	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S302I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	302					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCAATTATCACTAGCAATCCA	0.363000													44	41					9.39024e-22	1.3355e-21	0.009718	1	0
CARD16	114769	broad.mit.edu	37	11	104912149	104912149	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:104912149G>C	ENST00000375706.2	-	3	589	c.572C>G	c.(571-573)aCt>aGt	p.T191S	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATGAGTTCCAGTTTGCAACTC	0.393000													21	35					0	0	0.012319	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274302	68274302	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:68274302C>A	ENST00000347230.4	-	5	837	c.699G>T	c.(697-699)ggG>ggT	p.G233G	ZFYVE26_ENST00000555452.1_Silent_p.G233G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	233					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAACTCAACCCCAAGTGGTT	0.637000													16	31					2.31682e-05	2.4754e-05	0.024245	1	0
CDH19	28513	broad.mit.edu	37	18	64239255	64239255	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:64239255T>C	ENST00000262150.2	-	2	479	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	CDH19_ENST00000540086.1_Missense_Mutation_p.I63V	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACCTGGCCGATGTGATGACTA	0.378000													17	38					0	0	0.006122	0	0
TEX13A	56157	broad.mit.edu	37	X	104464879	104464879	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:104464879G>A	ENST00000372578.3	-	2	314	c.203C>T	c.(202-204)aCc>aTc	p.T68I	TEX13A_ENST00000413579.1_Missense_Mutation_p.T68I|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.T68I	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	68						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCTGCCCCAGGTGCAGGCCTC	0.582000													16	11					0	0	0.028581	0	0
OR3A1	4994	broad.mit.edu	37	17	3195410	3195410	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:3195410A>G	ENST00000323404.1	-	1	466	c.467T>C	c.(466-468)tTc>tCc	p.F156S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCGTTGGTGAAAGCACAAGC	0.572000													47	102					0	0	0.011902	0	0
ADAM8	101	broad.mit.edu	37	10	135086312	135086312	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:135086312T>A	ENST00000445355.3	-	8	745	c.695A>T	c.(694-696)cAc>cTc	p.H232L	ADAM8_ENST00000485491.2_Missense_Mutation_p.H193L|ADAM8_ENST00000415217.3_Missense_Mutation_p.H232L	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	193					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTTGTCCACGTGATTCACCAC	0.672000													14	23					0	0	0.020292	0	0
GRID1	2894	broad.mit.edu	37	10	87487768	87487768	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:87487768C>A	ENST00000327946.7	-	10	1462	c.1377G>T	c.(1375-1377)caG>caT	p.Q459H	GRID1_ENST00000536331.1_Missense_Mutation_p.Q30H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	459						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			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)	AGCGCTTGGGCTGTCCTAGGA	0.473000										Multiple Myeloma(13;0.14)			38	54					1.22674e-20	1.72933e-20	0.008740	1	0
TGFBI	7045	broad.mit.edu	37	5	135379745	135379745	+	Splice_Site	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135379745A>G	ENST00000442011.2	+	3	394		c.e3-1		TGFBI_ENST00000504185.1_Splice_Site|TGFBI_ENST00000305126.8_Splice_Site	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa						angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTGTTACAGAGTCATCAG	0.537000													95	51					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179659227	179659227	+	Missense_Mutation	SNP	C	C	T	rs146000949		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179659227C>T	ENST00000589042.1	-	8	1521	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I	TTN_ENST00000342175.6_Missense_Mutation_p.V433I|TTN_ENST00000359218.5_Missense_Mutation_p.V433I|TTN_ENST00000591111.1_Missense_Mutation_p.V433I|TTN_ENST00000360870.5_Missense_Mutation_p.V433I|TTN_ENST00000460472.2_Missense_Mutation_p.V433I|TTN_ENST00000342992.6_Missense_Mutation_p.V433I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	433	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATATCAACGGCAGCAACA	0.468000													17	78					0	0	0.007413	0	0
COL6A3	1293	broad.mit.edu	37	2	238277511	238277511	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:238277511G>T	ENST00000295550.4	-	10	5047	c.4595C>A	c.(4594-4596)gCg>gAg	p.A1532E	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1326E|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1332E|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1326E|COL6A3_ENST00000472056.1_Missense_Mutation_p.A925E|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1331E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1532	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGACTCCCCGCAGACTTAAC	0.597000													34	46					3.90053e-15	5.17912e-15	0.012213	1	0
TBX15	6913	broad.mit.edu	37	1	119474346	119474346	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:119474346A>T	ENST00000369429.3	-	2	324	c.315T>A	c.(313-315)gcT>gcA	p.A105A	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAGACATGGCAGCAGGCACAG	0.537000													13	27					0	0	0.024245	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741075	146741075	+	Missense_Mutation	SNP	G	G	C	rs138738227	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:146741075G>C	ENST00000361727.3	+	4	995	c.479G>C	c.(478-480)cGc>cCc	p.R160P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	160	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R160H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCTATGTGCGCATAGTGCCT	0.433000										HNSCC(39;0.1)			27	79					0	0	0.006320	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106888648	106888648	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:106888648G>C	ENST00000526355.1	-	1	602	c.134C>G	c.(133-135)cCg>cGg	p.P45R	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P45R|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P45R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	45					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGGCTCCAGCGGCCCGGGCGG	0.781000													2	5					0	0	0.004672	0	0
OR6A2	8590	broad.mit.edu	37	11	6816345	6816345	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6816345T>C	ENST00000332601.3	-	1	783	c.595A>G	c.(595-597)Aca>Gca	p.T199A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTGCTGTGGACATATCA	0.468000													37	98					0	0	0.019004	0	0
SI	6476	broad.mit.edu	37	3	164724621	164724621	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164724621C>A	ENST00000264382.3	-	37	4451	c.4389G>T	c.(4387-4389)caG>caT	p.Q1463H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1463	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGGTTTCATCTGTGACCATC	0.358000										HNSCC(35;0.089)			40	14					3.77016e-25	5.5469e-25	0.013114	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061411	117061411	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:117061411G>T	ENST00000355044.3	+	17	2802	c.2676G>T	c.(2674-2676)ctG>ctT	p.L892L	ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	892	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATGCTCTCTGAGGACATCAT	0.378000													16	48					0.000308642	0.000323821	0.024245	1	0
MEF2C	4208	broad.mit.edu	37	5	88119602	88119602	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:88119602C>A	ENST00000504921.2	-	2	676	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	MEF2C_ENST00000539796.1_Missense_Mutation_p.G2W|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2W|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2W|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2W|MEF2C_ENST00000437473.2_Missense_Mutation_p.G2W|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2W|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2W|MEF2C_ENST00000506554.1_Missense_Mutation_p.G2W|MEF2C_ENST00000424173.2_Missense_Mutation_p.G2W			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	2					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTTCTCCCCATAGTCCCC	0.338000										HNSCC(66;0.2)			136	137					1.82609e-66	2.84354e-66	0.014410	1	0
ZNF443	10224	broad.mit.edu	37	19	12542408	12542408	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:12542408C>G	ENST00000301547.5	-	4	775	c.578G>C	c.(577-579)gGa>gCa	p.G193A	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	193					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGTCCATCTCCACGCTGCAC	0.418000													36	93					0	0	0.023175	0	0
FAR1	84188	broad.mit.edu	37	11	13743308	13743308	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:13743308G>T	ENST00000532502.1	+	1	1859	c.31G>T	c.(31-33)Gct>Tct	p.A11S	FAR1_ENST00000354817.3_Missense_Mutation_p.A387S			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	387					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TCTTCACAAAGCTATGGTGTT	0.328000													24	39					9.57634e-11	1.1674e-10	0.018920	1	0
AJAP1	55966	broad.mit.edu	37	1	4772252	4772252	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:4772252G>C	ENST00000378191.4	+	2	703	c.322G>C	c.(322-324)Gcg>Ccg	p.A108P	AJAP1_ENST00000378190.3_Missense_Mutation_p.A108P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	108					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				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)		CCGGGACCAGGCGGCCGCCCT	0.736000													2	7					0	0	0.004672	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236619	140236619	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140236619T>C	ENST00000307360.5	+	1	986	c.986T>C	c.(985-987)aTg>aCg	p.M329T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329T|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCACCTATGGTTGGTCAC	0.408000													34	39					0	0	0.019004	0	0
CSMD3	114788	broad.mit.edu	37	8	113267587	113267587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113267587G>T	ENST00000297405.5	-	62	10176	c.9932C>A	c.(9931-9933)tCa>tAa	p.S3311*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3142*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3271*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3241*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3311	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAACCTCTGACTGGTATAT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	50					1.42536e-11	1.77476e-11	0.024334	1	0
SETBP1	26040	broad.mit.edu	37	18	42532199	42532199	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:42532199A>G	ENST00000282030.5	+	4	3190	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	965						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCAAGTTCCAAGTGTTCAGA	0.473000									Schinzel-Giedion syndrome				52	58					0	0	0.014410	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978304	69978304	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69978304C>A	ENST00000305231.7	+	6	1486	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTTGCAGCCCACGACCTCA	0.483000													52	118					4.25531e-23	6.10628e-23	0.014410	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84657464	84657464	+	Silent	SNP	G	G	T	rs141705388		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:84657464G>T	ENST00000286744.5	+	22	3962	c.3738G>T	c.(3736-3738)ggG>ggT	p.G1246G	ADAMTSL3_ENST00000567476.1_Silent_p.G1246G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1246	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGGAACTGGGAAGATACAGA	0.373000													8	39					5.18039e-06	5.67714e-06	0.003080	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	41					0	0	0.021553	0	0
RFX1	5989	broad.mit.edu	37	19	14104570	14104570	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:14104570G>A	ENST00000254325.4	-	2	320	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	29					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tggcggtggcggctggggctg	0.711000													5	15					0	0	0.028581	0	0
GLRA2	2742	broad.mit.edu	37	X	14627215	14627215	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:14627215G>C	ENST00000218075.4	+	7	1348	c.818G>C	c.(817-819)tGg>tCg	p.W273S	GLRA2_ENST00000443437.2_Missense_Mutation_p.W184S|GLRA2_ENST00000355020.4_Missense_Mutation_p.W273S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	273					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ATTTTGTCCTGGGTTTCCTTT	0.473000													51	29					0	0	0.014410	0	0
C9	735	broad.mit.edu	37	5	39306836	39306836	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:39306836G>C	ENST00000263408.4	-	9	1394	c.1299C>G	c.(1297-1299)acC>acG	p.T433T		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	433	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CATATTTTCTGGTTCCACCTC	0.403000													32	73					0	0	0.010818	0	0
VSTM4	196740	broad.mit.edu	37	10	50255035	50255035	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:50255035A>C	ENST00000332853.3	-	7	853	c.830T>G	c.(829-831)gTc>gGc	p.V277G		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	277						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TACCAGCGTGACTTTTCTCTG	0.453000													60	143					0	0	0.014410	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626897	108626897	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:108626897T>A	ENST00000264047.2	+	9	1599	c.1323T>A	c.(1321-1323)tcT>tcA	p.S441S	SLC5A7_ENST00000540517.1_Silent_p.S336S|SLC5A7_ENST00000409059.1_Silent_p.S441S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	441					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			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)	GTTATGTTTCTGGCCTCTTCC	0.453000													16	49					0	0	0.028581	0	0
DGKK	139189	broad.mit.edu	37	X	50163498	50163498	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:50163498G>T	ENST00000376025.2	-	0	904							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTTGTGGTGTAATAACCTA	0.388000													39	21					2.59497e-14	3.39628e-14	0.007835	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422368	47422368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:47422368G>T	ENST00000404338.3	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	146					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCAGGACTTTGAGCAGAAACA	0.483000													26	45					7.92952e-12	9.9119e-12	0.021523	1	0
LRP1B	53353	broad.mit.edu	37	2	141092122	141092122	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141092122C>A	ENST00000389484.3	-	79	13094	c.12123G>T	c.(12121-12123)atG>atT	p.M4041I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4041					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCAGTACATCATCCTGA	0.493000										TSP Lung(27;0.18)			18	41					1.67942e-08	1.94012e-08	0.006122	1	0
OR51B6	390058	broad.mit.edu	37	11	5373081	5373081	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5373081C>G	ENST00000380219.1	+	1	344	c.344C>G	c.(343-345)gCc>gGc	p.A115G	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTTGCCATGGCTTAT	0.473000													13	63					0	0	0.013537	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132611	91132611	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:91132611G>C	ENST00000373094.1	+	2	2217	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D458H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D458H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	458	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAAGTGAAAGATGAAAATGA	0.403000													27	12					0	0	0.012213	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694506	99694506	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:99694506G>A	ENST00000354649.3	+	2	1234	c.519G>A	c.(517-519)ggG>ggA	p.G173G	NUTM2G_ENST00000372322.3_Silent_p.G173G|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		TGTCCCCAGGGAACGCTGGGC	0.682000													26	126					0	0	0.018920	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378026	16378026	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:16378026G>T	ENST00000375679.4	+	13	1392	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.M258I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											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)		GGTACTTCATGCCCATCTTTG	0.592000													48	104					1.65492e-34	2.5278e-34	0.014410	1	0
C17orf77	146723	broad.mit.edu	37	17	72588218	72588218	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:72588218A>T	ENST00000392620.1	+	3	395	c.33A>T	c.(31-33)acA>acT	p.T11T	C17orf77_ENST00000328023.2_Silent_p.T11T|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	11						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTTCCCTGACATGTCTCCTTC	0.478000													48	92					0	0	0.014410	0	0
CLIC6	54102	broad.mit.edu	37	21	36042977	36042977	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:36042977G>C	ENST00000360731.3	+	1	1290	c.1290G>C	c.(1288-1290)gcG>gcC	p.A430A	CLIC6_ENST00000349499.2_Silent_p.A430A			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	430						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGAGGCCGCGCGCGTGAACG	0.741000													5	4					0	0	0.014758	0	0
TNN	63923	broad.mit.edu	37	1	175092651	175092651	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:175092651T>A	ENST00000239462.4	+	12	2879	c.2766T>A	c.(2764-2766)gcT>gcA	p.A922A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	922	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCTCTGCTGACGGAGAGA	0.597000													17	59					0	0	0.018920	0	0
CLN3	1201	broad.mit.edu	37	16	28493805	28493805	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:28493805T>A	ENST00000569430.1	-	13	1718	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	CLN3_ENST00000357857.9_Missense_Mutation_p.Q246L|CLN3_ENST00000333496.9_Missense_Mutation_p.Q276L|CLN3_ENST00000535392.1_Missense_Mutation_p.Q222L|CLN3_ENST00000395653.4_Missense_Mutation_p.Q200L|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.Q201L|CLN3_ENST00000568224.1_Missense_Mutation_p.Q222L|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000355477.5_Missense_Mutation_p.Q252L|CLN3_ENST00000567963.1_Missense_Mutation_p.Q300L|CLN3_ENST00000359984.7_Missense_Mutation_p.Q300L|CLN3_ENST00000360019.2_Missense_Mutation_p.Q300L|CLN3_ENST00000357076.5_Missense_Mutation_p.Q190L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	300					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TACAAGTCCCTGGTTAATGAA	0.547000													22	38					0	0	0.012319	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209711	140209711	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140209711T>A	ENST00000529310.1	+	1	2149	c.2035T>A	c.(2035-2037)Tca>Aca	p.S679T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAAGGCGTCATCACGGGC	0.677000													40	29					0	0	0.007835	0	0
CASD1	64921	broad.mit.edu	37	7	94183816	94183816	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94183816A>G	ENST00000297273.4	+	17	2343	c.2056A>G	c.(2056-2058)Aga>Gga	p.R686G		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	686						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCCTAATAAGAAACATCCC	0.274000													24	59					0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455181	110455181	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:110455181T>A	ENST00000378402.5	+	36	4504	c.4400T>A	c.(4399-4401)tTt>tAt	p.F1467Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1467	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGGTTCATTTTCTTACCAA	0.318000										HNSCC(38;0.096)			21	36					0	0	0.027356	0	0
COQ5	84274	broad.mit.edu	37	12	120947835	120947835	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:120947835G>C	ENST00000288532.6	-	4	706	c.666C>G	c.(664-666)gtC>gtG	p.V222V	COQ5_ENST00000445328.2_Silent_p.V148V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAATGTGTGTGACATTCCGGA	0.438000													15	37					0	0	0.020292	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876190	20876190	+	Splice_Site	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:20876190T>G	ENST00000381552.1	+	9	1554		c.e9+2		SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTGTGATCGGTATGCTCATCT	0.443000													17	40					0	0	0.006122	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129971	35129971	+	RNA	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:35129971T>C	ENST00000436258.1	-	0	3398																											TAAAACATAATAATTCACATG	0.328000													56	135					0	0	0.014410	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:90078030G>A	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													37	21					0	0	0.021022	0	0
RNF182	221687	broad.mit.edu	37	6	13977639	13977639	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:13977639G>A	ENST00000488300.1	+	3	812	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	RNF182_ENST00000544682.1_Missense_Mutation_p.G97R|RNF182_ENST00000537388.1_Missense_Mutation_p.G97R|RNF182_ENST00000537663.1_Missense_Mutation_p.G97R	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	97						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGGAGGCAAAGGGAAGAAGTG	0.542000													58	84					0	0	0.014410	0	0
POTEM	641455	broad.mit.edu	37	14	20019955	20019955	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:20019955G>A	ENST00000551509.1	-	1	317	c.266C>T	c.(265-267)tCt>tTt	p.S89F		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	89										endometrium(4)|kidney(1)|lung(4)	9						CTTCATAGCAGAGTCGTCGTG	0.627000													32	290					0	0	0.014410	0	0
TBX18	9096	broad.mit.edu	37	6	85446515	85446515	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:85446515G>T	ENST00000369663.5	-	8	2049	c.1712C>A	c.(1711-1713)cCt>cAt	p.P571H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	571					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCCTTCCACAGGGGGCAACAT	0.522000													40	18					4.0492e-12	5.12152e-12	0.027894	1	0
NXF3	56000	broad.mit.edu	37	X	102332651	102332651	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:102332651A>T	ENST00000395065.3	-	18	1576	c.1475T>A	c.(1474-1476)cTc>cAc	p.L492H	NXF3_ENST00000425644.1_Missense_Mutation_p.L164H|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	492	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGCACAAAGAGCTTGTCATT	0.572000													42	22					0	0	0.008740	0	0
CNTN5	53942	broad.mit.edu	37	11	99715885	99715885	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99715885C>A	ENST00000524871.1	+	6	758	c.468C>A	c.(466-468)acC>acA	p.T156T	CNTN5_ENST00000528682.1_Silent_p.T156T|CNTN5_ENST00000527185.1_Silent_p.T156T|CNTN5_ENST00000279463.3_Silent_p.T156T|CNTN5_ENST00000418526.2_Silent_p.T82T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	156	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAGATGGCACCTTCATTATAA	0.373000													35	69					8.53417e-09	9.93068e-09	0.013726	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879384	3879384	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879384C>G	ENST00000315677.3	-	4	1280	c.685G>C	c.(685-687)Gac>Cac	p.D229H	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D229H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	229					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCGAGCGGTCGGGGCACCTG	0.647000													152	187					0	0	0.014410	0	0
NLGN2	57555	broad.mit.edu	37	17	7317751	7317751	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7317751A>T	ENST00000302926.2	+	3	670	c.597A>T	c.(595-597)tcA>tcT	p.S199S	NLGN2_ENST00000575301.1_Silent_p.S199S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	199					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			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCGATGGCTCAGTCCTGGCTG	0.597000													27	73					0	0	0.008361	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986125	11986125	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:11986125G>T	ENST00000434078.2	+	0	608					NR_027425.1																						GAGCTGCCTGGATATCCAGGG	0.473000													7	28					0.00448238	0.00461952	0.004482	1	0
FOXG1	2290	broad.mit.edu	37	14	29236541	29236541	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:29236541G>T	ENST00000382535.3	+	2	425	c.56G>T	c.(55-57)aGc>aTc	p.S19I	FOXG1_ENST00000313071.4_Missense_Mutation_p.S19I			P55316	FOXG1_HUMAN	forkhead box G1	19					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCTCGTTCAGCATCAACAGC	0.652000													7	18					1.12685e-05	1.21822e-05	0.004482	1	0
DNM2	1785	broad.mit.edu	37	19	10893766	10893766	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:10893766C>T	ENST00000314646.5	+	6	983	c.819C>T	c.(817-819)ggC>ggT	p.G273G	DNM2_ENST00000359692.6_Silent_p.G273G|DNM2_ENST00000408974.4_Silent_p.G273G|DNM2_ENST00000585892.1_Silent_p.G273G|DNM2_ENST00000355667.6_Silent_p.G273G|DNM2_ENST00000389253.4_Silent_p.G273G			P50570	DYN2_HUMAN	dynamin 2	273					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCGCATGGGCACGCCACATC	0.577000			"""F, N, Splice, Mis, O"""		ETP ALL								15	47					0	0	0.006122	0	0
ZNF518B	85460	broad.mit.edu	37	4	10444812	10444812	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:10444812G>A	ENST00000326756.3	-	3	3579	c.3141C>T	c.(3139-3141)gaC>gaT	p.D1047D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTCTTCCTGGTCTTCATACA	0.413000													31	80					0	0	0.009535	0	0
SMYD1	150572	broad.mit.edu	37	2	88405918	88405918	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:88405918G>C	ENST00000419482.2	+	8	1141	c.1056G>C	c.(1054-1056)cgG>cgC	p.R352R	SMYD1_ENST00000444564.2_Silent_p.R339R|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACATGCTGCGGATGCTGAGCA	0.547000													22	41					0	0	0.014323	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854287	12854287	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:12854287G>A	ENST00000332296.7	+	3	614	c.511G>A	c.(511-513)Gtt>Att	p.V171I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	171										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGTGGGTTTACCAAAG	0.433000													83	283					0	0	0.014410	0	0
PEX11A	8800	broad.mit.edu	37	15	90227164	90227164	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:90227164T>C	ENST00000300056.3	-	3	337	c.188A>G	c.(187-189)aAt>aGt	p.N63S	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_Silent_p.Q24Q|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	63					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTACCACATTGCCTAGTCT	0.448000													23	48					0	0	0.014323	0	0
NSD1	64324	broad.mit.edu	37	5	176637520	176637520	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:176637520C>G	ENST00000439151.2	+	5	2165	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S604*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S438*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S438*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	707					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTAGTAACTCACATACAGAC	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			43	25					0	0	0.008740	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638707	18638707	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:18638707C>A	ENST00000449552.2	+	7	2465	c.981C>A	c.(979-981)atC>atA	p.I327I	TRIM16L_ENST00000395672.2_Silent_p.I327I|TRIM16L_ENST00000395671.4_Silent_p.I327I|TRIM16L_ENST00000571708.1_Silent_p.I327I|TRIM16L_ENST00000572555.1_Silent_p.I327I|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395902.3_Silent_p.I381I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	327	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAAACGCCATCCGGATTGTAG	0.527000													8	33					3.52763e-06	3.89256e-06	0.004990	1	0
HMGCS1	3157	broad.mit.edu	37	5	43298817	43298817	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:43298817T>C	ENST00000325110.6	-	3	457	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.Y84C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	84					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AATGCAATCATAGGAAAGGTT	0.428000													70	116					0	0	0.014410	0	0
BDP1	55814	broad.mit.edu	37	5	70798483	70798483	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:70798483A>G	ENST00000358731.4	+	15	2369	c.2106A>G	c.(2104-2106)gtA>gtG	p.V702V	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	702					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			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)		TAAGACCTGTACAAGTGAGGG	0.383000													23	14					0	0	0.018920	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27844781	27844781	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:27844781G>C	ENST00000318304.8	+	27	3086	c.2803G>C	c.(2803-2805)Gga>Cga	p.G935R	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G904R|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G782R|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G929R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	935					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACAGGCATCAGGAAGTGCATC	0.403000													38	81					0	0	0.027894	0	0
TLR4	7099	broad.mit.edu	37	9	120470943	120470943	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:120470943C>T	ENST00000355622.6	+	2	297	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.L26L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	66					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTTAATCCCCTGAGGCATTT	0.443000													52	132					0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167056253	167056253	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:167056253C>G	ENST00000375387.4	-	27	5239	c.4899G>C	c.(4897-4899)acG>acC	p.T1633T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.T1621T|SCN9A_ENST00000303354.6_Silent_p.T1633T|SCN9A_ENST00000409435.1_Silent_p.T1632T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1632						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAAAGAGCAGCGTGCGGATCC	0.502000													53	110					0	0	0.014410	0	0
USP19	10869	broad.mit.edu	37	3	49149744	49149744	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:49149744C>A	ENST00000453664.1	-	19	3020	c.2702G>T	c.(2701-2703)cGg>cTg	p.R901L	USP19_ENST00000434032.2_Missense_Mutation_p.R911L|USP19_ENST00000398892.3_Missense_Mutation_p.R850L|USP19_ENST00000398896.1_Missense_Mutation_p.R618L|USP19_ENST00000398888.2_Missense_Mutation_p.R810L|USP19_ENST00000398898.2_Missense_Mutation_p.R850L|USP19_ENST00000417901.1_Missense_Mutation_p.R913L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	810					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGTAGCACCGGGTACAGCG	0.617000													4	6					1.23904e-05	1.33275e-05	0.014758	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526361	176526361	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:176526361C>A	ENST00000367662.3	+	2	2067	c.903C>A	c.(901-903)aaC>aaA	p.N301K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N301K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	301					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACAGAACAACCCAGCCATCA	0.577000													4	13					0.000602214	0.000627715	0.014758	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146017900	146017900	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:146017900C>G	ENST00000394413.3	-	6	1274	c.704G>C	c.(703-705)tGc>tCc	p.C235S	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.C241S|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.C235S|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.C293S|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.C301S|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.C235S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.C238S|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.C235S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	235					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTGTTGCAATGATGGGG	0.542000													43	21					0	0	0.007835	0	0
FAT3	120114	broad.mit.edu	37	11	92564960	92564960	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92564960T>A	ENST00000298047.6	+	13	9671	c.9654T>A	c.(9652-9654)tcT>tcA	p.S3218S	FAT3_ENST00000525166.1_Silent_p.S3068S|FAT3_ENST00000409404.2_Silent_p.S3218S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3218	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGTCCTCTCTCACTACTG	0.577000										TCGA Ovarian(4;0.039)			11	11					0	0	0.008291	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8219105	8219105	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8219105C>A	ENST00000361926.3	+	8	1564	c.1454C>A	c.(1453-1455)tCt>tAt	p.S485Y	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S485Y	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	485	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGTGTGCGCTCTTCCCCCCAC	0.577000													17	18					5.35267e-07	5.99949e-07	0.007413	1	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204596	103204596	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:103204596C>A	ENST00000502978.1	+	1	44	c.44C>A	c.(43-45)cCc>cAc	p.P15H	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000395067.2_Missense_Mutation_p.P126T|MSANTD3_ENST00000374885.1_Missense_Mutation_p.P126T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.P13T	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		44					multicellular organismal development	integral to membrane|plasma membrane											GCAGAGCCCCCCGGAGGAGGA	0.587000													15	36					5.01169e-05	5.33691e-05	0.004990	1	0
AGPS	8540	broad.mit.edu	37	2	178301756	178301756	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:178301756G>T	ENST00000264167.4	+	5	757	c.611G>T	c.(610-612)cGa>cTa	p.R204L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	204	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.R204Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATGTTTGAGCGAATTCCTGAT	0.303000													30	72					3.67414e-24	5.3442e-24	0.012213	1	0
LDHC	3948	broad.mit.edu	37	11	18472631	18472631	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18472631G>T	ENST00000541669.1	+	8	1067	c.956G>T	c.(955-957)aGt>aTt	p.S319I	LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000280704.4_Missense_Mutation_p.S319I|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.S305I|LDHC_ENST00000535809.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	319					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTCAAGAAGAGTGCAGAAACA	0.388000													29	55					1.2476e-16	1.68808e-16	0.006320	1	0
CARD6	84674	broad.mit.edu	37	5	40843302	40843302	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:40843302G>C	ENST00000254691.5	+	2	531	c.332G>C	c.(331-333)aGc>aCc	p.S111T	CARD6_ENST00000381677.3_Missense_Mutation_p.S111T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	111					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGGGCAAGCAGTAATTCA	0.383000													50	83					0	0	0.014410	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68919654	68919654	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:68919654A>G	ENST00000356291.2	-	10	1349	c.1290T>C	c.(1288-1290)gaT>gaC	p.D430D	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	430	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGGCAATCCAATCTCGATACT	0.408000													33	60					0	0	0.013726	0	0
SEMA5B	54437	broad.mit.edu	37	3	122662294	122662294	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:122662294G>T	ENST00000195173.4	-	4	720	c.417C>A	c.(415-417)atC>atA	p.I139I	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Silent_p.I193I|SEMA5B_ENST00000357599.3_Silent_p.I139I			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	139	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGCTCCCACGATGAGCTGGT	0.602000													9	16					1.76689e-08	2.03383e-08	0.006214	1	0
GAS2L2	246176	broad.mit.edu	37	17	34074283	34074283	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:34074283G>A	ENST00000254466.6	-	5	864	c.837C>T	c.(835-837)caC>caT	p.H279H	GAS2L2_ENST00000587565.1_Silent_p.H263H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	279					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCTGGCTTGTGTGCTACCA	0.597000													52	101					0	0	0.014410	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471976	75471976	+	RNA	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:75471976T>G	ENST00000459803.1	-	0	1165					NR_024241.1																						AGAGGGCAGTTTGTGGTTTCT	0.393000													6	4					0	0	0.021553	0	0
MRO	83876	broad.mit.edu	37	18	48331580	48331580	+	Missense_Mutation	SNP	C	C	T	rs143359256	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:48331580C>T	ENST00000428869.2	-	6	631	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	MRO_ENST00000256425.2_Missense_Mutation_p.G125S|MRO_ENST00000398439.3_Missense_Mutation_p.G125S|MRO_ENST00000431965.2_Missense_Mutation_p.G139S|MRO_ENST00000588444.1_Missense_Mutation_p.G125S|MRO_ENST00000436348.2_Missense_Mutation_p.G139S|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	125						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GAACCCAAACCTTTCCCCTGG	0.433000													50	45					0	0	0.014410	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554035	140554035	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140554035C>T	ENST00000231137.3	+	1	1793	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCCCCCGCGCTGAGCAGC	0.697000													45	32					0	0	0.010771	0	0
APC2	10297	broad.mit.edu	37	19	1466497	1466497	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:1466497C>T	ENST00000535453.1	+	14	4910	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S1066L|APC2_ENST00000238483.4_Missense_Mutation_p.S792L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1066	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCACTCTCGCTGTCCCGA	0.682000													5	10					0	0	0.014758	0	0
MBD1	4152	broad.mit.edu	37	18	47806252	47806252	+	Splice_Site	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:47806252C>T	ENST00000591416.1	-	2	542		c.e2+1		MBD1_ENST00000398493.1_Splice_Site|MBD1_ENST00000398495.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000591535.1_Splice_Site|MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000590208.1_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000588937.1_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000398488.1_Splice_Site			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCACCCAGTACCTCTGGTAAT	0.537000													16	50					0	0	0.004990	0	0
ADAM11	4185	broad.mit.edu	37	17	42852065	42852065	+	Splice_Site	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42852065G>T	ENST00000200557.6	+	14	1337		c.e14-1		ADAM11_ENST00000535346.1_Splice_Site	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11						integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCACCCCTCAGGGGACTGCAA	0.652000													11	47					6.40141e-05	6.7942e-05	0.010729	1	0
MECOM	2122	broad.mit.edu	37	3	168834254	168834254	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:168834254T>C	ENST00000464456.1	-	7	2042	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	MECOM_ENST00000494292.1_Missense_Mutation_p.Y469C|MECOM_ENST00000433243.2_Missense_Mutation_p.Y282C|MECOM_ENST00000392736.3_Missense_Mutation_p.Y281C|MECOM_ENST00000264674.3_Missense_Mutation_p.Y346C|MECOM_ENST00000472280.1_Missense_Mutation_p.Y282C|MECOM_ENST00000468789.1_Missense_Mutation_p.Y281C|MECOM_ENST00000460814.1_Missense_Mutation_p.Y281C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGCGCCAAAATAGTCAGCAAG	0.493000													15	79					0	0	0.024245	0	0
OR9A2	135924	broad.mit.edu	37	7	142723861	142723861	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:142723861A>T	ENST00000350513.2	-	1	421	c.359T>A	c.(358-360)gTg>gAg	p.V120E		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ACACACAGCCACATAACGGTC	0.438000													28	57					0	0	0.027356	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18474230	18474230	+	Translation_Start_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:18474230C>A	ENST00000380548.4	+	0	339				ADAMTSL1_ENST00000431052.2_De_novo_Start_InFrame|ADAMTSL1_ENST00000380566.4_De_novo_Start_InFrame|ADAMTSL1_ENST00000327883.7_De_novo_Start_InFrame|ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380570.4_De_novo_Start_InFrame	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGATCCAAGCATGGAATGCT	0.512000													38	36					1.07121e-22	1.53372e-22	0.027894	1	0
PPFIA2	8499	broad.mit.edu	37	12	81768458	81768458	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:81768458A>T	ENST00000550584.2	-	10	1516	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	PPFIA2_ENST00000550359.2_Silent_p.P254P|PPFIA2_ENST00000548586.1_Silent_p.P407P|PPFIA2_ENST00000552948.1_Silent_p.P407P|PPFIA2_ENST00000443686.3_Silent_p.P308P|PPFIA2_ENST00000549396.1_Silent_p.P407P|PPFIA2_ENST00000407050.4_Silent_p.P333P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.P389P|PPFIA2_ENST00000333447.7_Silent_p.P389P	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	333										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTCTACTTCAGGCAAGGTTT	0.433000													39	61					0	0	0.025465	0	0
ENPEP	2028	broad.mit.edu	37	4	111452358	111452358	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:111452358A>G	ENST00000265162.5	+	11	2074	c.1732A>G	c.(1732-1734)Aca>Gca	p.T578A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	578					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ttttaGTTATACATGGAATAT	0.204000													15	22					0	0	0.028581	0	0
FZD4	8322	broad.mit.edu	37	11	86662821	86662821	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:86662821G>A	ENST00000531380.1	-	2	1282	c.977C>T	c.(976-978)aCt>aTt	p.T326I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	326					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAAAACCAAGTGAGTGTCAG	0.453000													13	23					0	0	0.016723	0	0
CUBN	8029	broad.mit.edu	37	10	16870935	16870935	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16870935C>G	ENST00000377833.4	-	66	10698	c.10633G>C	c.(10633-10635)Gct>Cct	p.A3545P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3545	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTTCCAGCAGGAGCAACA	0.522000													65	44					0	0	0.014410	0	0
GRM1	2911	broad.mit.edu	37	6	146755793	146755793	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:146755793C>T	ENST00000361719.2	+	9	3916	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1149L|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACGCCTCCGTCGCCTTTCCGC	0.657000													5	43					0	0	0.014758	0	0
DMBT1	1755	broad.mit.edu	37	10	124399936	124399936	+	Silent	SNP	G	G	C	rs112912048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124399936G>C	ENST00000338354.3	+	52	7042	c.6936G>C	c.(6934-6936)acG>acC	p.T2312T	DMBT1_ENST00000368956.2_Silent_p.T1684T|DMBT1_ENST00000368955.3_Silent_p.T2302T|DMBT1_ENST00000344338.3_Silent_p.T2302T|DMBT1_ENST00000368909.3_Silent_p.T2312T|DMBT1_ENST00000359586.6_Silent_p.T1032T|DMBT1_ENST00000330163.4_Silent_p.T1684T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2312	ZP.				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			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)				ATGACTTCACGTCTTTGACTT	0.458000													19	40					0	0	0.007413	0	0
F13B	2165	broad.mit.edu	37	1	197030098	197030098	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:197030098C>A	ENST00000367412.1	-	4	602	c.559G>T	c.(559-561)Gct>Tct	p.A187S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	187	Sushi 3.				blood coagulation	extracellular region				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						TTTCCTCCAGCTGTGTAGTAG	0.388000													30	84					3.1745e-13	4.0715e-13	0.008361	1	0
VEPH1	79674	broad.mit.edu	37	3	157146169	157146169	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:157146169G>T	ENST00000362010.2	-	5	945	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.P213Q|VEPH1_ENST00000543418.1_Missense_Mutation_p.P213Q|VEPH1_ENST00000392832.2_Missense_Mutation_p.P213Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	213						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTACTGTTCTGGCTGTTCCAG	0.443000													102	28					5.84261e-33	8.88188e-33	0.014410	1	0
LINGO4	339398	broad.mit.edu	37	1	151774763	151774763	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151774763G>A	ENST00000368820.3	-	2	1355	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	140						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTTGAGGCGGAGGTCCAGC	0.582000													35	69					0	0	0.013726	0	0
TIE1	7075	broad.mit.edu	37	1	43772569	43772569	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:43772569G>C	ENST00000372476.3	+	4	622	c.543G>C	c.(541-543)caG>caC	p.Q181H	TIE1_ENST00000441333.2_Missense_Mutation_p.Q181H|TIE1_ENST00000538015.1_Missense_Mutation_p.Q181H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	181					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCTGCTGCAGCTCCCAAATG	0.607000													18	46					0	0	0.006122	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741244	242741244	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:242741244C>T	ENST00000192314.6	+	3	299	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	56					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACATCATGTTCCTGAAGACGC	0.662000													18	33					0	0	0.008871	0	0
RECQL	5965	broad.mit.edu	37	12	21629893	21629893	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:21629893T>C	ENST00000444129.2	-	8	1369	c.901A>G	c.(901-903)Att>Gtt	p.I301V	RECQL_ENST00000421138.2_Missense_Mutation_p.I301V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	301	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATATCCTCAATAAAATCTTCA	0.338000								Other identified genes with known or suspected DNA repair function					13	39					0	0	0.004990	0	0
PRRX1	5396	broad.mit.edu	37	1	170633413	170633413	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:170633413C>A	ENST00000239461.6	+	1	367	c.54C>A	c.(52-54)cgC>cgA	p.R18R	PRRX1_ENST00000497230.2_Silent_p.R18R|PRRX1_ENST00000367760.3_Silent_p.R18R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGCGGCCGCTTGGACAGCC	0.662000													14	19					6.31663e-08	7.20613e-08	0.024245	1	0
SLIT1	6585	broad.mit.edu	37	10	98770785	98770785	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:98770785G>C	ENST00000266058.4	-	31	3551	c.3306C>G	c.(3304-3306)gtC>gtG	p.V1102V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.V1102V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1102	EGF-like 5.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTAGCTGTTGACTTCATCCA	0.592000													6	18					0	0	0.001984	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880577	24880577	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:24880577C>A	ENST00000396432.2	-	23	4524	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1133D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1345					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTACAAGAGGCTCTTCAGCAC	0.393000													33	161					8.73648e-17	1.18461e-16	0.019004	1	0
OR9I1	219954	broad.mit.edu	37	11	57886521	57886521	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:57886521A>G	ENST00000302610.1	-	1	395	c.396T>C	c.(394-396)taT>taC	p.Y132Y	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGCCACGGTATAGAGCAGTG	0.557000													12	38					0	0	0.016723	0	0
REG1P	5969	broad.mit.edu	37	2	79365157	79365157	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:79365157G>T	ENST00000444841.1	-	0	101																											TCTGAGCCATGCTGAGCAGCA	0.478000													7	20					0.000442599	0.000463607	0.006214	1	0
TGM4	7047	broad.mit.edu	37	3	44945437	44945437	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44945437G>A	ENST00000296125.4	+	9	1101	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	345					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			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)	GGGCTACGACGGCTGGCAGGC	0.652000													35	46					0	0	0.019004	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178505	74178505	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:74178505T>A	ENST00000300504.2	+	7	749	c.666T>A	c.(664-666)gcT>gcA	p.A222A	TBC1D21_ENST00000562056.1_Silent_p.A185A|TBC1D21_ENST00000535547.2_Silent_p.A186A	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	222	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCGTGTTTGCTGAGCACCTAA	0.592000													15	35					0	0	0.024245	0	0
GTF2I	2969	broad.mit.edu	37	7	74113421	74113421	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:74113421C>G	ENST00000324896.4	+	4	758	c.369C>G	c.(367-369)tgC>tgG	p.C123W	GTF2I_ENST00000443166.1_Missense_Mutation_p.C123W|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.C123W|GTF2I_ENST00000346152.4_Missense_Mutation_p.C123W|GTF2I_ENST00000353920.4_Missense_Mutation_p.C123W	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	123					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCTGCTTTTGCTATGGTAAAA	0.294000													7	23					0	0	0.003080	0	0
APOB	338	broad.mit.edu	37	2	21231404	21231404	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:21231404T>A	ENST00000233242.1	-	26	8463	c.8336A>T	c.(8335-8337)aAt>aTt	p.N2779I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2779					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTGGTTCCATTCCCTATGTC	0.398000													40	65					0	0	0.008740	0	0
OR4B1	119765	broad.mit.edu	37	11	48239279	48239279	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:48239279A>T	ENST00000309562.2	+	1	936	c.918A>T	c.(916-918)ccA>ccT	p.P306P		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGAGAATCCAGGGAGGGAGT	0.408000													11	31					0	0	0.013537	0	0
KCNIP4	80333	broad.mit.edu	37	4	21305454	21305454	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:21305454C>G	ENST00000382150.4	-	1	158	c.76G>C	c.(76-78)Ggg>Cgg	p.G26R	KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000509207.1_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCAATCAGCCCAAACTGTTCC	0.398000													8	37					0	0	0.003080	0	0
PCDH18	54510	broad.mit.edu	37	4	138452706	138452706	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:138452706A>T	ENST00000344876.4	-	1	923	c.537T>A	c.(535-537)aaT>aaA	p.N179K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.N179K|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	179	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					TAAAAAAATCATTGGCAGAGA	0.483000													17	40					0	0	0.006122	0	0
CR2	1380	broad.mit.edu	37	1	207649656	207649656	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207649656G>A	ENST00000367057.3	+	15	2983	c.2794G>A	c.(2794-2796)Gga>Aga	p.G932R	CR2_ENST00000458541.2_Missense_Mutation_p.G846R|CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.G873R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	873	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTCTCCTGGAATGTCAAT	0.527000													25	76					0	0	0.018920	0	0
C17orf82	388407	broad.mit.edu	37	17	59489603	59489603	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:59489603C>T	ENST00000335108.2	+	1	492	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	89										cervix(1)|lung(1)	2						GGCACCCTCCCGGGAGCGCCT	0.721000											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	0.001984	0	0
DENND4A	10260	broad.mit.edu	37	15	66007893	66007893	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:66007893T>A	ENST00000443035.3	-	14	2091	c.1876A>T	c.(1876-1878)Att>Ttt	p.I626F	DENND4A_ENST00000431932.2_Missense_Mutation_p.I626F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	626	dDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGAAGCGAATAAACATTTGT	0.328000													7	21					0	0	0.001984	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154600	9154600	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:9154600C>A	ENST00000382496.5	-	12	2146	c.1481_splice	c.e12+1	p.S494_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	494				S -> R (in Ref. 2; AAC14668).	cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGCCCTACCTGCGTGTGCG	0.612000													38	39					3.28013e-08	3.76891e-08	0.021022	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879506	3879506	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879506C>G	ENST00000315677.3	-	4	1158	c.563G>C	c.(562-564)cGc>cCc	p.R188P	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R188P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGCTCCGCGCGCCGCTCCTT	0.711000													53	258					0	0	0.014410	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315349	22315349	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:22315349C>A	ENST00000390434.3	+	0	512																											TTCCACCTGACGAAACCCTCA	0.517000													39	59					4.44401e-20	6.18297e-20	0.010771	1	0
ZNF462	58499	broad.mit.edu	37	9	109691071	109691071	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:109691071A>G	ENST00000277225.5	+	3	5167	c.4878A>G	c.(4876-4878)gaA>gaG	p.E1626E	ZNF462_ENST00000457913.1_Silent_p.E1626E|ZNF462_ENST00000441147.2_Silent_p.E471E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1626					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGACCACTGAAGTGAGCCCTT	0.557000													23	62					0	0	0.016522	0	0
LRRK2	120892	broad.mit.edu	37	12	40707845	40707845	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:40707845G>C	ENST00000298910.7	+	32	4666	c.4608G>C	c.(4606-4608)tcG>tcC	p.S1536S	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1536					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCATTTTATCGGAGCGTAAAA	0.373000													13	37					0	0	0.013537	0	0
ZNF568	374900	broad.mit.edu	37	19	37488355	37488355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:37488355G>T	ENST00000455427.2	+	9	1899	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGGGAGAGACCCCA	0.448000													5	13					0.000602214	0.000627715	0.014758	1	0
METTL22	79091	broad.mit.edu	37	16	8736032	8736032	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:8736032A>G	ENST00000381920.3	+	8	1133	c.875A>G	c.(874-876)tAc>tGc	p.Y292C	METTL22_ENST00000561758.1_Missense_Mutation_p.Y236C|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	292							methyltransferase activity			large_intestine(5)|lung(4)	9						TCTGACTTGTACGATCACACC	0.478000													16	59					0	0	0.004990	0	0
CD163	9332	broad.mit.edu	37	12	7640427	7640427	+	Silent	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:7640427T>G	ENST00000359156.4	-	7	1879	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	CD163_ENST00000541972.1_Silent_p.V547V|CD163_ENST00000432237.2_Silent_p.V559V|CD163_ENST00000396620.3_Silent_p.V559V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	559	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCGGGGTGCTACTGGGCAGA	0.502000													32	58					0	0	0.010818	0	0
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)		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)		CTCTCCTGGAGGGGGGGCTTC	0.502000													49	313					1.74971e-23	2.52211e-23	0.014410	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724494	38724494	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:38724494G>A	ENST00000342213.2	-	1	1080	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	245	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCCGGGGCAGGGACACAACAC	0.617000													46	120					0	0	0.014410	0	0
STAT5B	6777	broad.mit.edu	37	17	40362219	40362219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40362219C>A	ENST00000293328.3	-	15	2044	c.1876G>T	c.(1876-1878)Ggc>Tgc	p.G626C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	626	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ATGGTGATGCCGCCAATTTCT	0.428000													30	51					2.12542e-12	2.69894e-12	0.006320	1	0
TPO	7173	broad.mit.edu	37	2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					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			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)	CGGCTTCAGTCAGCCCCGAGG	0.602000													29	60					7.41945e-09	8.64927e-09	0.027356	1	0
PCDHA12	56137	broad.mit.edu	37	5	140256339	140256339	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140256339C>A	ENST00000398631.2	+	1	1282	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.R428W(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACTGCGCGGGATGGGGG	0.637000													124	76					1.15969e-64	1.80146e-64	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141208166	141208166	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141208166C>G	ENST00000389484.3	-	63	10999	c.10028G>C	c.(10027-10029)gGt>gCt	p.G3343A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3343	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATCCATCACCACAGTCATC	0.348000										TSP Lung(27;0.18)			19	65					0	0	0.007413	0	0
ASIC2	40	broad.mit.edu	37	17	32483062	32483062	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:32483062G>T	ENST00000359872.6	-	1	1251	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	164					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ATATCCTTCAGGTCATGGCCC	0.557000													23	72					1.1804e-14	1.55443e-14	0.021523	1	0
ATP6V1C2	245973	broad.mit.edu	37	2	10923308	10923308	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:10923308G>A	ENST00000381661.3	+	13	1174	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	ATP6V1C2_ENST00000272238.4_Silent_p.V401V	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	401					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGGCATCTGTGGAGATCCCGG	0.443000													20	45					0	0	0.010504	0	0
GPR98	84059	broad.mit.edu	37	5	89986666	89986666	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:89986666G>A	ENST00000405460.2	+	31	6855	c.6759G>A	c.(6757-6759)aaG>aaA	p.K2253K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2253					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTCAGTGAAGGTAAACCTGC	0.428000													17	10					0	0	0.028581	0	0
DYRK1B	9149	broad.mit.edu	37	19	40317964	40317964	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:40317964C>A	ENST00000593685.1	-	8	1524	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	DYRK1B_ENST00000430012.2_Silent_p.G352G|DYRK1B_ENST00000323039.5_Silent_p.G352G|DYRK1B_ENST00000348817.3_Silent_p.G352G|DYRK1B_ENST00000597639.1_Silent_p.G352G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	352	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCAGCCACCCCCAGGCAGCC	0.652000													14	23					6.72482e-11	8.24499e-11	0.024245	1	0
MYO16	23026	broad.mit.edu	37	13	109318423	109318423	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:109318423C>A	ENST00000356711.2	+	2	278	c.152C>A	c.(151-153)gCg>gAg	p.A51E	MYO16_ENST00000357550.2_Missense_Mutation_p.A51E|MYO16_ENST00000251041.5_Missense_Mutation_p.A51E	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	51					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGAAGCATGCGAAGAATCCG	0.483000													12	12					3.07112e-06	3.39467e-06	0.010729	1	0
SRRM4	84530	broad.mit.edu	37	12	119563220	119563220	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:119563220C>A	ENST00000267260.4	+	7	938	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	184	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACCGCCACCGCCATCACCG	0.612000													17	27					6.94344e-10	8.27524e-10	0.006122	1	0
CCM2L	140706	broad.mit.edu	37	20	30610545	30610545	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:30610545G>T	ENST00000300415.8	+	6	1029	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	CCM2L_ENST00000262659.8_Missense_Mutation_p.R339L					cerebral cavernous malformation 2-like									p.R339Q(2)									TGTGTGGACCGGGCTGGCTAC	0.587000													15	46					2.61681e-11	3.24566e-11	0.020292	1	0
PTPRC	5788	broad.mit.edu	37	1	198687375	198687375	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:198687375A>G	ENST00000367376.2	+	14	1768	c.1597A>G	c.(1597-1599)Aag>Gag	p.K533E	PTPRC_ENST00000348564.6_Missense_Mutation_p.K374E|PTPRC_ENST00000594404.1_Missense_Mutation_p.K372E|PTPRC_ENST00000442510.2_Missense_Mutation_p.K535E|PTPRC_ENST00000352140.3_Missense_Mutation_p.K485E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	533	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAGTCGCATAAGAATTGCGA	0.398000													12	22					0	0	0.013537	0	0
LGI4	163175	broad.mit.edu	37	19	35617862	35617862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:35617862G>A	ENST00000392225.3	-	7	1207	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Nonsense_Mutation_p.Q230*			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	230						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTCCCCTTGGTAGGAGAAG	0.652000													15	43					0	0	0.024245	0	0
HECTD4	283450	broad.mit.edu	37	12	112673511	112673511	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:112673511G>A	ENST00000550722.1	-	36	5479	c.5084C>T	c.(5083-5085)cCg>cTg	p.P1695L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P1419L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P1669L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTTTGGAGACGGGCGTTGGTC	0.562000													11	21					0	0	0.008291	0	0
DGKB	1607	broad.mit.edu	37	7	14722240	14722240	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:14722240G>T	ENST00000403951.2	-	12	1392	c.973C>A	c.(973-975)Cac>Aac	p.H325N	DGKB_ENST00000258767.5_Missense_Mutation_p.H325N|DGKB_ENST00000402815.1_Missense_Mutation_p.H325N|DGKB_ENST00000406247.3_Missense_Mutation_p.H325N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.H318N|DGKB_ENST00000407950.1_Missense_Mutation_p.H318N|DGKB_ENST00000399322.3_Missense_Mutation_p.H325N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	325					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACAGTTTTGTGGCACTTATCA	0.423000													40	93					1.48646e-12	1.89887e-12	0.010771	1	0
PHRF1	57661	broad.mit.edu	37	11	608731	608731	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:608731G>T	ENST00000264555.5	+	14	3403	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L	PHRF1_ENST00000413872.2_Missense_Mutation_p.R1090L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1088L|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1091L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1092	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCCGGTCGCGGTCGGGGAGC	0.632000													12	19					1.61879e-10	1.95477e-10	0.013537	1	0
C1QL3	389941	broad.mit.edu	37	10	16562732	16562732	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16562732G>A	ENST00000298943.3	-	1	1272	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	111	Collagen-like.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCCCGGCCGCGTTCAggccgg	0.761000													6	48					0	0	0.021553	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563910	228563910	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228563910A>T	ENST00000258403.3	-	3	592	c.521T>A	c.(520-522)gTc>gAc	p.V174D	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.V170D	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	174			V -> I (in dbSNP:rs59736804).		thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAAGGATATGACGTTGAGGTA	0.507000													27	85					0	0	0.024334	0	0
ITFG1	81533	broad.mit.edu	37	16	47345160	47345160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:47345160G>A	ENST00000320640.6	-	10	1289	c.1061C>T	c.(1060-1062)aCa>aTa	p.T354I	ITFG1_ENST00000544001.2_Missense_Mutation_p.T241I|ITFG1_ENST00000568047.1_5'UTR|RP11-474B12.1_ENST00000564739.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	354						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CCTTCCAGATGTGTTCTTTAG	0.353000													15	25					0	0	0.004990	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890142	228890142	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228890142C>T	ENST00000392056.3	-	5	455	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G137R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	137						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAGATTTCCAGAGGCTAAC	0.378000													19	60					0	0	0.007413	0	0
GPLD1	2822	broad.mit.edu	37	6	24473885	24473885	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:24473885T>A	ENST00000230036.1	-	6	562	c.452A>T	c.(451-453)cAc>cTc	p.H151L	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATAGGAGCCGTGAAAATCAAT	0.393000													22	15					0	0	0.021523	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018775	34018775	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:34018775C>A	ENST00000382499.2	-	24	3291	c.3292G>T	c.(3292-3294)Ggt>Tgt	p.G1098C	SYNJ1_ENST00000357345.3_Missense_Mutation_p.G1059C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1098C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G1054C|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G1059C	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1059	Pro-rich.			Missing (in Ref. 1; BAA74933).			inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTACAGGACCCTCTGATATT	0.517000													61	99					3.95532e-38	6.07052e-38	0.014410	1	0
TMC3	342125	broad.mit.edu	37	15	81625263	81625263	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81625263G>T	ENST00000558726.1	-	22	2938	c.2803C>A	c.(2803-2805)Cgc>Agc	p.R935S	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R934S|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	934						integral to membrane		p.R938S(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAGGCTGGCGGGGGACCCGG	0.552000													13	44					9.05144e-12	1.12922e-11	0.016723	1	0
TNS3	64759	broad.mit.edu	37	7	47333420	47333420	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47333420T>C	ENST00000398879.1	-	25	4049	c.3683A>G	c.(3682-3684)gAt>gGt	p.D1228G	TNS3_ENST00000311160.9_Missense_Mutation_p.D1228G|TNS3_ENST00000355730.3_Missense_Mutation_p.D988G			Q68CZ2	TENS3_HUMAN	tensin 3	1228	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATTGGCCAAATCTCCAGCTGT	0.438000													28	50					0	0	0.007291	0	0
DNAH7	56171	broad.mit.edu	37	2	196659141	196659141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196659141C>T	ENST00000312428.6	-	57	10737	c.10637G>A	c.(10636-10638)gGt>gAt	p.G3546D	DNAH7_ENST00000409063.1_Missense_Mutation_p.G29D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3546	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCCGTAAACCTTTTGGTGC	0.443000													35	83					0	0	0.015359	0	0
SEC31B	25956	broad.mit.edu	37	10	102256959	102256959	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:102256959C>A	ENST00000370345.3	-	17	2166	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTCCACACTCCCTGAGCACAC	0.582000													15	43					7.93312e-07	8.84529e-07	0.020292	1	0
FAM47B	170062	broad.mit.edu	37	X	34962223	34962223	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:34962223G>T	ENST00000329357.5	+	1	1311	c.1275G>T	c.(1273-1275)ccG>ccT	p.P425P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	425								p.P425P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTACCA	0.547000													31	10					3.80469e-20	5.3166e-20	0.009535	1	0
KDR	3791	broad.mit.edu	37	4	55987310	55987310	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55987310C>T	ENST00000263923.4	-	2	410	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	39					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.D39Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTAAGTATGTCTTTTTGTATG	0.333000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	62					0	0	0.028581	0	0
IL24	11009	broad.mit.edu	37	1	207072725	207072725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207072725C>A	ENST00000367093.3	+	3	382	c.108C>A	c.(106-108)tgC>tgA	p.C36*	IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.C35*|IL24_ENST00000391929.3_Nonsense_Mutation_p.C36*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	35					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					TGCTCCCTTGCCTGGGTTTTA	0.592000													22	46					1.1804e-14	1.55443e-14	0.021523	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657254	72657254	+	RNA	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:72657254A>T	ENST00000425256.1	-	0	2657					NR_002164.1																						ggactagaagactccagcctt	0.498000													26	37					0	0	0.027356	0	0
CUBN	8029	broad.mit.edu	37	10	16916401	16916401	+	Missense_Mutation	SNP	C	C	A	rs144314567		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16916401C>A	ENST00000377833.4	-	58	9273	c.9208G>T	c.(9208-9210)Gtt>Ttt	p.V3070F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3070	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGTCACTAACGGTGATGGTA	0.403000													27	156					0.000117367	0.000123952	0.027356	1	0
OR52I2	143502	broad.mit.edu	37	11	4608485	4608485	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4608485T>C	ENST00000312614.4	+	1	465	c.443T>C	c.(442-444)aTg>aCg	p.M148T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGCTGACCATGGCTTTTGAC	0.493000													16	70					0	0	0.006122	0	0
OR11L1	391189	broad.mit.edu	37	1	248005080	248005080	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248005080A>G	ENST00000355784.2	-	1	174	c.119T>C	c.(118-120)aTa>aCa	p.I40T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTCCCTATAATGGTCAG	0.502000													14	28					0	0	0.016723	0	0
TRAV7	28686	broad.mit.edu	37	14	22251695	22251695	+	RNA	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:22251695A>T	ENST00000390429.3	+	0	312																											CTGAAGATTCAGCCACCTATT	0.453000													10	21					0	0	0.008291	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704507	47704507	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704507C>G	ENST00000397708.1	-	2	948	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E232Q			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	232					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCTCTTCCTCTACATTTTGG	0.388000													21	61					0	0	0.010504	0	0
OR10T2	128360	broad.mit.edu	37	1	158369186	158369186	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:158369186A>T	ENST00000334438.1	-	1	70	c.71T>A	c.(70-72)cTc>cAc	p.L24H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCAGCTGGAGCTCCCCCAG	0.483000													11	29					0	0	0.010729	0	0
KIF21B	23046	broad.mit.edu	37	1	200954076	200954076	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:200954076G>C	ENST00000332129.2	-	27	4030	c.3714C>G	c.(3712-3714)ccC>ccG	p.P1238P	KIF21B_ENST00000461742.2_Silent_p.P1238P|KIF21B_ENST00000422435.2_Silent_p.P1238P|KIF21B_ENST00000360529.5_Silent_p.P1238P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1238					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGATGATGGGGGTGTGAATC	0.612000													14	52					0	0	0.020292	0	0
FIGN	55137	broad.mit.edu	37	2	164467533	164467533	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:164467533G>T	ENST00000333129.3	-	3	1123	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGCTGAAGGCGGAGGCGGTGC	0.592000													19	35					7.45023e-12	9.33101e-12	0.010504	1	0
DAAM2	23500	broad.mit.edu	37	6	39864638	39864638	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:39864638A>T	ENST00000538976.1	+	20	2574	c.2392A>T	c.(2392-2394)Atg>Ttg	p.M798L	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.M798L|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.M798L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	798	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCTTAGACAGATGCTAGAGGT	0.622000													18	8					0	0	0.004990	0	0
MAP1B	4131	broad.mit.edu	37	5	71492996	71492996	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:71492996C>A	ENST00000296755.7	+	5	4112	c.3814C>A	c.(3814-3816)Ctg>Atg	p.L1272M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1272						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGACCCCCCTGGGTGAACG	0.517000													51	23					3.86236e-30	5.81626e-30	0.014410	1	0
RIMS2	9699	broad.mit.edu	37	8	104922385	104922385	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104922385G>C	ENST00000507740.1	+	3	1308	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	RIMS2_ENST00000406091.3_Missense_Mutation_p.D550H|RIMS2_ENST00000436393.2_Missense_Mutation_p.D328H|RIMS2_ENST00000262231.10_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	617					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTGGTTGGATCATACGTC	0.393000										HNSCC(12;0.0054)			32	91					0	0	0.012213	0	0
CUL9	23113	broad.mit.edu	37	6	43170895	43170895	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:43170895A>G	ENST00000252050.4	+	18	3886	c.3802A>G	c.(3802-3804)Aac>Gac	p.N1268D	CUL9_ENST00000354495.3_Missense_Mutation_p.N1158D|CUL9_ENST00000372647.2_Missense_Mutation_p.N1268D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1268	DOC.			N -> S (in Ref. 3; CAH18328).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAGAACCTGAACCGCTTCTG	0.577000													23	28					0	0	0.021523	0	0
OR10G4	390264	broad.mit.edu	37	11	123886995	123886995	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:123886995G>T	ENST00000320891.4	+	1	714	c.714G>T	c.(712-714)caG>caT	p.Q238H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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)		GAGCCTTTCAGACCTGTGCCT	0.542000													22	57					1.50039e-11	1.86456e-11	0.012319	1	0
SLC35E2	9906	broad.mit.edu	37	1	1670363	1670363	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1670363C>T	ENST00000355439.2	-	4	1216	c.456G>A	c.(454-456)atG>atA	p.M152I	SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152I|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152I	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCTTTACCTCATCAGACCCA	0.473000													8	28					0	0	0.010729	0	0
PTPRH	5794	broad.mit.edu	37	19	55707974	55707974	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55707974G>A	ENST00000376350.3	-	10	2195	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.R547W	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	725	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTAGGACCGAGCCGGCCCG	0.632000													29	44					0	0	0.007291	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899252	112899252	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112899252G>T	ENST00000374530.3	+	8	1608	c.1428G>T	c.(1426-1428)ccG>ccT	p.P476P	AKAP2_ENST00000510514.5_Silent_p.P476P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P476P|AKAP2_ENST00000259318.7_Silent_p.P245P|AKAP2_ENST00000434623.2_Silent_p.P334P|AKAP2_ENST00000555236.1_Silent_p.P476P|AKAP2_ENST00000374525.1_Silent_p.P334P	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		245							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGAATCCCCCGCAGGAAAAAA	0.542000													18	42					5.3912e-06	5.87797e-06	0.006122	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156559	55156559	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55156559C>A	ENST00000257290.5	+	22	3291	c.2960C>A	c.(2959-2961)gCa>gAa	p.A987E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A747E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	987					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCAGACAATGCATACATTGGT	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			28	82					2.12542e-12	2.69894e-12	0.006320	1	0
GPATCH8	23131	broad.mit.edu	37	17	42475961	42475961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42475961C>A	ENST00000434000.1	-	9	3532	c.3250G>T	c.(3250-3252)Gaa>Taa	p.E1084*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.E1162*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1162						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCAGACTCTTCACACTTCTTA	0.542000													50	121					1.32667e-27	1.97e-27	0.014410	1	0
BCORL1	63035	broad.mit.edu	37	X	129184758	129184758	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:129184758G>T	ENST00000540052.1	+	10	4729	c.4685G>T	c.(4684-4686)aGt>aTt	p.S1562I	BCORL1_ENST00000218147.7_Missense_Mutation_p.S1562I|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1432I|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1636I	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1562					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTTTACAGCAGTTCTGTGTTG	0.502000													61	39					8.33888e-18	1.14525e-17	0.014410	1	0
PXDN	7837	broad.mit.edu	37	2	1684055	1684055	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1684055C>G	ENST00000252804.4	-	7	690	c.640G>C	c.(640-642)Ggg>Cgg	p.G214R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	214	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGCGTTCCCCGACTCCGCG	0.582000													11	24					0	0	0.010729	0	0
KCND2	3751	broad.mit.edu	37	7	119915355	119915355	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:119915355G>T	ENST00000331113.4	+	1	1634	c.669G>T	c.(667-669)gaG>gaT	p.E223D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	223					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGTGGAGAGCGGTATGCTG	0.542000													27	39					7.41945e-09	8.64927e-09	0.027356	1	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45396681G>T	ENST00000303230.4	-	4	1200	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507000													18	75					5.03518e-11	6.20909e-11	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9075389	9075389	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9075389G>A	ENST00000397910.4	-	3	12260	c.12057C>T	c.(12055-12057)gaC>gaT	p.D4019D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4021	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGCTGACGTCCCTCAGTT	0.473000													27	56					0	0	0.024334	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316445	43316445	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:43316445T>C	ENST00000321925.4	+	6	727	c.495T>C	c.(493-495)aaT>aaC	p.N165N	SLC14A1_ENST00000591943.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Silent_p.N60N|SLC14A1_ENST00000415427.3_Silent_p.N221N|SLC14A1_ENST00000535474.1_Silent_p.N33N|SLC14A1_ENST00000502059.2_Silent_p.N57N|SLC14A1_ENST00000586142.1_Silent_p.N165N|SLC14A1_ENST00000589700.1_Silent_p.N165N|SLC14A1_ENST00000436407.3_Silent_p.N221N	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	165						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTGCATTGAATTCCATGCTCA	0.458000													34	114					0	0	0.023175	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981323	67981323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:67981323C>T	ENST00000422611.2	-	15	2028	c.1989G>A	c.(1987-1989)tgG>tgA	p.W663*	SLC12A4_ENST00000338335.3_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000537830.2_Nonsense_Mutation_p.W655*|SLC12A4_ENST00000576616.1_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000541864.2_Nonsense_Mutation_p.W630*|SLC12A4_ENST00000572037.1_Nonsense_Mutation_p.W613*|SLC12A4_ENST00000316341.3_Nonsense_Mutation_p.W661*	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	661					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCGTCACCCCACTCCTTCT	0.667000													5	10					0	0	0.021553	0	0
OR4N4	283694	broad.mit.edu	37	15	22383416	22383416	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22383416G>T	ENST00000328795.4	+	1	1035	c.944G>T	c.(943-945)aGa>aTa	p.R315I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TTTATAATAAGAAACTGAGAA	0.388000													11	21					6.40141e-05	6.7942e-05	0.010729	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:143141256C>A	ENST00000332690.1	+	1	711	c.711C>A	c.(709-711)ccC>ccA	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483000													38	69					2.09667e-21	2.96873e-21	0.017118	1	0
UNC5D	137970	broad.mit.edu	37	8	35406851	35406851	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:35406851G>C	ENST00000287272.2	+	2	165	c.145G>C	c.(145-147)Gct>Cct	p.A49P	UNC5D_ENST00000416672.1_Missense_Mutation_p.A49P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A44P|UNC5D_ENST00000404895.2_Missense_Mutation_p.A49P|UNC5D_ENST00000420357.1_Missense_Mutation_p.A49P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	49					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATCCCATCAGCTCCTGGGAC	0.483000													13	40					0	0	0.016723	0	0
SNX27	81609	broad.mit.edu	37	1	151611499	151611499	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151611499G>T	ENST00000368843.3	+	2	567	c.447G>T	c.(445-447)tcG>tcT	p.S149S	SNX27_ENST00000458013.2_Silent_p.S149S|SNX27_ENST00000368838.1_Silent_p.S56S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	149					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGACGACTCGTTGGGACAAT	0.468000													25	53					1.64293e-13	2.11565e-13	0.018920	1	0
CUL3	8452	broad.mit.edu	37	2	225371641	225371641	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:225371641C>G	ENST00000264414.4	-	7	1301	c.963G>C	c.(961-963)ttG>ttC	p.L321F	CUL3_ENST00000344951.4_Missense_Mutation_p.L255F|CUL3_ENST00000409777.1_Missense_Mutation_p.L297F|CUL3_ENST00000409096.1_Missense_Mutation_p.L297F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	321					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.L321F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGCTCCCTCAAATAGGAAC	0.378000													26	36					0	0	0.006320	0	0
INSC	387755	broad.mit.edu	37	11	15260566	15260566	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15260566C>A	ENST00000379554.3	+	11	1526	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M|INSC_ENST00000525218.1_Missense_Mutation_p.L405M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000528567.1_Missense_Mutation_p.L447M	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	494					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGTGACCCTGGCTCGTCT	0.602000													16	26					1.15088e-07	1.30135e-07	0.028581	1	0
LRP1B	53353	broad.mit.edu	37	2	141108566	141108566	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141108566T>A	ENST00000389484.3	-	77	12663	c.11692A>T	c.(11692-11694)Atc>Ttc	p.I3898F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3898					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACCCAGGATATCAGTGTCA	0.294000										TSP Lung(27;0.18)			35	91					0	0	0.021022	0	0
CCDC155	147872	broad.mit.edu	37	19	49902726	49902726	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:49902726C>G	ENST00000447857.3	+	9	965	c.760C>G	c.(760-762)Cag>Gag	p.Q254E		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	254						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAAGGAGCAGCAGCATCTGGT	0.572000													7	9					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127595187	127595187	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127595187C>A	ENST00000508053.1	-	71	9673	c.8699G>T	c.(8698-8700)gGg>gTg	p.G2900V	FBN2_ENST00000262464.4_Missense_Mutation_p.G2900V			P35556	FBN2_HUMAN	fibrillin 2	2900					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGAGCCTCCCCAAGCTCCCC	0.493000													62	44					9.53978e-28	1.41987e-27	0.014410	1	0
AARD	441376	broad.mit.edu	37	8	117954796	117954796	+	Splice_Site	SNP	G	G	A	rs77850379		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:117954796G>A	ENST00000378279.3	+	2	369		c.e2-1		AARD_ENST00000523536.1_Splice_Site	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein																		CTAACTTTTAGGTGGAAATGC	0.343000													8	16					0	0	0.003080	0	0
ZFHX3	463	broad.mit.edu	37	16	72821667	72821667	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:72821667T>A	ENST00000268489.5	-	10	11180	c.10508A>T	c.(10507-10509)cAc>cTc	p.H3503L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.H2589L|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3503					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gGTGGGGACGTGAAGCACCAT	0.731000													13	29					0	0	0.013537	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671053	22671053	+	RNA	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:22671053A>T	ENST00000390460.1	+	0	118																											CTTGCCTTGTAACCACTCCAC	0.448000													17	38					0	0	0.028581	0	0
ZNF592	9640	broad.mit.edu	37	15	85326315	85326315	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:85326315A>C	ENST00000299927.3	+	1	431	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	ZNF592_ENST00000560079.2_Missense_Mutation_p.T137P			Q92610	ZN592_HUMAN	zinc finger protein 592	137					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCATTACCCACCTTCAACCA	0.478000													49	91					0	0	0.014410	0	0
IQCD	115811	broad.mit.edu	37	12	113645397	113645397	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113645397C>T	ENST00000546692.1	-	2	948	c.575G>A	c.(574-576)gGt>gAt	p.G192D	IQCD_ENST00000299732.2_Missense_Mutation_p.G192D|IQCD_ENST00000416617.2_Missense_Mutation_p.G192D			Q96DY2	IQCD_HUMAN	IQ motif containing D	192										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAACAGGAAACCACGGAGCTC	0.473000													22	66					0	0	0.010504	0	0
SUSD2	56241	broad.mit.edu	37	22	24584279	24584279	+	Missense_Mutation	SNP	C	C	A	rs150371467		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24584279C>A	ENST00000358321.3	+	14	2689	c.2428C>A	c.(2428-2430)Cgc>Agc	p.R810S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	810					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTGCTGCGCCGCAGGAAGGG	0.657000													8	20					0.00621372	0.00637304	0.006214	1	0
PRPF8	10594	broad.mit.edu	37	17	1576801	1576801	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:1576801C>A	ENST00000572621.1	-	22	3772	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1169H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1169						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTCTCCCACTGAACTGTAG	0.547000													29	57					2.4375e-19	3.38395e-19	0.007291	1	0
LINC00477	144360	broad.mit.edu	37	12	24736660	24736660	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:24736660G>T	ENST00000483544.1	-	0	442					NR_029451.2																						GGGGAAGGAGGGTGAGGAACA	0.582000													31	87					3.03874e-20	4.2649e-20	0.015359	1	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229092	90229092	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:90229092C>A	ENST00000390278.2	+	0	48																											CGCTCAGCTCCTGGGGCTCCT	0.552000													44	25					5.57489e-27	8.2591e-27	0.014410	1	0
SEPHS2	22928	broad.mit.edu	37	16	30456594	30456594	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:30456594C>A	ENST00000478753.2	-	1	908	c.455G>T	c.(454-456)cGc>cTc	p.R152L	SEPHS2_ENST00000500504.2_Missense_Mutation_p.R152L|SEPHS2_ENST00000542752.1_Missense_Mutation_p.R95L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	152					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAAGCTATGCGCCCCATCAT	0.547000													23	46					5.35047e-06	5.85351e-06	0.018920	1	0
FAM53B	9679	broad.mit.edu	37	10	126370314	126370314	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:126370314C>A	ENST00000337318.3	-	4	979	c.768G>T	c.(766-768)ctG>ctT	p.L256L	FAM53B_ENST00000392754.3_Silent_p.L256L|FAM53B_ENST00000280780.6_Silent_p.L256L|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	256										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCGTCTCGCCAGCTCTGGTG	0.587000													4	13					3.59834e-05	3.83823e-05	0.021553	1	0
RHO	6010	broad.mit.edu	37	3	129249874	129249874	+	Missense_Mutation	SNP	G	G	C	rs139731264		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:129249874G>C	ENST00000296271.3	+	2	611	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	173					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACCCCCACTCGCCGGCTGGTC	0.612000													15	36					0	0	0.028581	0	0
DMD	1756	broad.mit.edu	37	X	32459328	32459328	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:32459328C>G	ENST00000357033.4	-	28	4096	c.3890G>C	c.(3889-3891)gGc>gCc	p.G1297A	DMD_ENST00000378677.2_Missense_Mutation_p.G1293A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCAGCTCCGCCAGGAATGTT	0.358000													31	21					0	0	0.007291	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597874	62597874	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:62597874G>A	ENST00000450537.1	-	5	714	c.654C>T	c.(652-654)gtC>gtT	p.V218V	ZNF512B_ENST00000217130.3_Silent_p.V218V|ZNF512B_ENST00000369888.1_Silent_p.V218V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGGTCTGCCGACCGAGACTG	0.597000													65	165					0	0	0.014410	0	0
NHS	4810	broad.mit.edu	37	X	17739579	17739579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:17739579G>T	ENST00000380060.3	+	4	1209	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E135*|NHS_ENST00000485305.1_3'UTR	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	291						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCAGAGGATGAAGATACAGA	0.433000													25	13					4.59853e-10	5.49078e-10	0.027356	1	0
HCN1	348980	broad.mit.edu	37	5	45262356	45262356	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45262356G>C	ENST00000303230.4	-	8	2397	c.2340C>G	c.(2338-2340)acC>acG	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632000													22	61					0	0	0.016522	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431630	26431630	+	RNA	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:26431630C>A	ENST00000466808.2	+	0	1578																											GCAGCCACTGCACAATGCCTC	0.587000													58	64					3.31993e-32	5.03496e-32	0.014410	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40822701	40822701	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40822701A>T	ENST00000293349.6	-	10	1865	c.1435T>A	c.(1435-1437)Ttg>Atg	p.L479M	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.L479M|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.L482M			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	482	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGTCCTCCAACCCAGCTTCC	0.672000													17	19					0	0	0.006122	0	0
CCDC129	223075	broad.mit.edu	37	7	31683113	31683113	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:31683113C>T	ENST00000319386.3	+	11	2678	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	CCDC129_ENST00000409210.1_Missense_Mutation_p.T618I|CCDC129_ENST00000451887.2_Missense_Mutation_p.T736I|CCDC129_ENST00000407970.3_Missense_Mutation_p.T710I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	710										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCTGTAATGACCCAGATGTCC	0.522000													25	45					0	0	0.016522	0	0
TRIM68	55128	broad.mit.edu	37	11	4621844	4621844	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4621844C>G	ENST00000300747.5	-	7	1409	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	374	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCTTACATACTCCCAGGCCC	0.537000													18	29					0	0	0.007413	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16834669	16834669	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:16834669C>A	ENST00000355661.3	-	13	2008	c.1998G>T	c.(1996-1998)ctG>ctT	p.L666L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L666L|PLEKHA7_ENST00000448080.2_Silent_p.L666L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	666	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTTTAGATCCAGGTACTCCA	0.468000													15	34					7.93312e-07	8.84529e-07	0.020292	1	0
EYA1	2138	broad.mit.edu	37	8	72182001	72182001	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72182001C>A	ENST00000340726.3	-	11	1663	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	EYA1_ENST00000388741.2_Missense_Mutation_p.G308W|EYA1_ENST00000419131.1_Missense_Mutation_p.G337W|EYA1_ENST00000388743.2_Missense_Mutation_p.G341W|EYA1_ENST00000303824.7_Missense_Mutation_p.G336W|EYA1_ENST00000388740.3_Missense_Mutation_p.G309W|EYA1_ENST00000388742.4_Missense_Mutation_p.G342W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	342					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCGTAGGACCCAGTAAGCAAG	0.398000													33	91					6.29468e-14	8.18821e-14	0.021022	1	0
DNHD1	144132	broad.mit.edu	37	11	6588904	6588904	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6588904C>T	ENST00000254579.6	+	36	12729	c.12165C>T	c.(12163-12165)gcC>gcT	p.A4055A	DNHD1_ENST00000527990.2_Silent_p.A4055A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4055					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCAGGTGCCCTGGCAGACT	0.617000													16	38					0	0	0.024245	0	0
UBB	7314	broad.mit.edu	37	17	16285753	16285753	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:16285753G>A	ENST00000302182.3	+	2	924	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.V178M|UBB_ENST00000395839.1_Missense_Mutation_p.V178M|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.V102M	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	178	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CATCGAAAATGTGAAGGCCAA	0.552000													21	47					0	0	0.010504	0	0
KIF21A	55605	broad.mit.edu	37	12	39720119	39720119	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:39720119T>C	ENST00000395670.3	-	24	3767	c.3348A>G	c.(3346-3348)gtA>gtG	p.V1116V	KIF21A_ENST00000541463.2_Silent_p.V1080V|KIF21A_ENST00000361418.5_Silent_p.V1116V|KIF21A_ENST00000544797.2_Silent_p.V1096V|KIF21A_ENST00000361961.3_Silent_p.V1103V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1116					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTATCCTCTACATTTTCTA	0.358000													11	35					0	0	0.010729	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766128	14766128	+	Missense_Mutation	SNP	G	G	A	rs140551603		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14766128G>A	ENST00000261170.3	-	27	3281	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1049					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGGCTACCCGTCTGGGTTTT	0.433000													74	158					0	0	0.014410	0	0
TAF4	6874	broad.mit.edu	37	20	60581806	60581806	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:60581806T>C	ENST00000252996.3	-	7	1982	c.1983A>G	c.(1981-1983)ttA>ttG	p.L661L	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	661	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|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|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGGCGGGTAAGCTCCTCT	0.587000													16	27					0	0	0.004990	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208417	65208417	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:65208417G>C	ENST00000247226.7	+	14	2322	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261Q|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E728Q	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	728					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAAAATGCAGAACACCATGA	0.527000													22	84					0	0	0.016522	0	0
DNAH9	1770	broad.mit.edu	37	17	11757566	11757566	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:11757566C>A	ENST00000262442.3	+	50	9822	c.9754C>A	c.(9754-9756)Cct>Act	p.P3252T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3252T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3252	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGTTCAATCCTGAGTTTGT	0.488000													40	106					1.69901e-12	2.16607e-12	0.023175	1	0
CNKSR1	10256	broad.mit.edu	37	1	26510929	26510929	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:26510929C>T	ENST00000531191.1	+	11	1271	c.264C>T	c.(262-264)ccC>ccT	p.P88P	CNKSR1_ENST00000374253.5_Silent_p.P353P|CNKSR1_ENST00000361530.6_Silent_p.P346P			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	353	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCATCCCCCCGGAACCCC	0.637000													13	17					0	0	0.013537	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237225	140237225	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140237225A>T	ENST00000307360.5	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q531L|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCTACAGTTCCAGGTG	0.677000													80	49					0	0	0.014410	0	0
DNHD1	144132	broad.mit.edu	37	11	6589744	6589744	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6589744C>G	ENST00000254579.6	+	38	13163	c.12599C>G	c.(12598-12600)aCt>aGt	p.T4200S	DNHD1_ENST00000527990.2_Missense_Mutation_p.T4200S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4200					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGTAAGCACTGTTCACAGA	0.463000													24	48					0	0	0.016522	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:23890799G>T	ENST00000532292.1	-	1	376	c.282C>A	c.(280-282)ccC>ccA	p.P94P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652000													3	8					0.004672	0.00479949	0.004672	1	0
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56258161G>T	ENST00000327216.2	-	1	710	c.686C>A	c.(685-687)tCt>tAt	p.S229Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413000													17	34					4.14922e-12	5.23767e-12	0.028581	1	0
DUSP18	150290	broad.mit.edu	37	22	31059931	31059931	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:31059931G>C	ENST00000403268.1	-	2	530	c.60C>G	c.(58-60)ctC>ctG	p.L20L	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.L20L|DUSP18_ENST00000334679.3_Silent_p.L20L|DUSP18_ENST00000404885.1_Silent_p.L20L			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	20						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TTATCTGCGAGAGGCCGCTGA	0.552000													15	40					0	0	0.024245	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													4	5	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77651571	77651571	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:77651571delG	ENST00000461745.1	+	20	3965	c.3065delG	c.(3064-3066)acfs	p.S1023fs	ROBO2_ENST00000487694.3_Frame_Shift_Del_p.S1039fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.S1023fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1023					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			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)		CAATGGAAAAGCTCAATTCAG	0.443													23	17	---	---	---	---					
SLCO2A1	6578	broad.mit.edu	37	3	133657272	133657272	+	Splice_Site	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:133657272delC	ENST00000310926.4	-	12	1964		c.e12+1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TAGACACTTACCCAGCAAGCG	0.537													103	66	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	167	---	---	---	---					
CCDC39	339829	broad.mit.edu	37	3	180372672	180372672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:180372672delC	ENST00000273654.4	-	13	1679	c.1060delG	c.(1060-1062)aafs	p.E354fs	CCDC39_ENST00000442201.2_Frame_Shift_Del_p.E270fs			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	270					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCTCACTTTCCAAAAACTTG	0.318													59	22	---	---	---	---					
CDC20B	166979	broad.mit.edu	37	5	54442506	54442509	+	Frame_Shift_Del	DEL	GCTT	GCTT	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:54442506_54442509delGCTT	ENST00000334206.5	-	3	478_481	c.302_305delAAGC	c.(301-306)gtfs	p.EA101fs	CDC20B_ENST00000381375.2_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000296733.1_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000322374.6_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000331730.3_Frame_Shift_Del_p.EA80fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	101										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGATCCGGAAGCTTCTGGGAGGTA	0.529											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	60	---	---	---	---					
PCDHB3	56132	broad.mit.edu	37	5	140480891	140480891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140480891delC	ENST00000231130.2	+	1	658	c.658delC	c.(658-660)ccfs	p.P221fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGGCTCTCCCCCTCGGTC	0.552													44	30	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	2820892	2820894	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820892_2820894delCGG	ENST00000602557.1	-	61	9862_9864	c.9307_9309delCCG	c.(9307-9309)del	p.P3103del	CSMD1_ENST00000520002.1_In_Frame_Del_p.P3103del|CSMD1_ENST00000542608.1_In_Frame_Del_p.P2925del|CSMD1_ENST00000400186.3_In_Frame_Del_p.P2926del|CSMD1_ENST00000537824.1_In_Frame_Del_p.P3102del|CSMD1_ENST00000602723.1_In_Frame_Del_p.P2926del			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3103	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTCTGCACCGGCGGCGGCTGA	0.537													39	177	---	---	---	---					
INTS10	55174	broad.mit.edu	37	8	19681415	19681415	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:19681415delT	ENST00000397977.3	+	7	1094	c.696delT	c.(694-696)ccfs	p.P232fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	232					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAATGTCACCTAGCAAACGTA	0.403													29	53	---	---	---	---					
TUBBP1	92755	broad.mit.edu	37	8	30210561	30210562	+	RNA	INS	-	-	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:30210561_30210562insA	ENST00000518096.1	+	0	1173_1174																											AATGGATCCCCAACAATATCAA	0.525													36	84	---	---	---	---					
RP1	6101	broad.mit.edu	37	8	55533949	55533950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:55533949_55533950insG	ENST00000220676.1	+	2	571_572	c.423_424insG	c.(421-426)cctagcfs	p.S142fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	142					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.V142I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGCCCCACCCCGTAGCCGTCGC	0.698													25	64	---	---	---	---					
ADAMTS13	11093	broad.mit.edu	37	9	136302011	136302011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:136302011delG	ENST00000371929.3	+	12	1815	c.1371delG	c.(1369-1371)ccfs	p.P457fs	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.P426fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.P457fs|ADAMTS13_ENST00000536611.1_Frame_Shift_Del_p.P129fs|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	457			P -> L (in dbSNP:rs36220240).		cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACGGCCAGCCGCTGCGCTCCT	0.697													5	7	---	---	---	---					
TAS2R8	50836	broad.mit.edu	37	12	10959383	10959383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:10959383delC	ENST00000240615.2	-	1	509	c.197delG	c.(196-198)gcfs	p.G66fs		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	66					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTACAATGCCATTTACAAC	0.318													31	72	---	---	---	---					
PKP2	5318	broad.mit.edu	37	12	32975546	32975547	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:32975546_32975547delCA	ENST00000340811.4	-	8	1801_1802	c.1693_1694delTG	c.(1693-1695)cfs	p.C565fs	PKP2_ENST00000070846.6_Frame_Shift_Del_p.C609fs	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	609					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGAAGAATGCACACACAATTC	0.426													22	58	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	6	---	---	---	---					
UNC45B	146862	broad.mit.edu	37	17	33497240	33497241	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:33497240_33497241insC	ENST00000268876.5	+	12	1752_1753	c.1655_1656insC	c.(1654-1656)gccfs	p.A552fs	UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Frame_Shift_Ins_p.A552fs|UNC45B_ENST00000394570.2_Frame_Shift_Ins_p.A552fs|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	552					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTCCAGGACGTCCCTGCCCTGC	0.619													15	30	---	---	---	---					
FLRT3	23767	broad.mit.edu	37	20	14306693	14306694	+	Frame_Shift_Ins	INS	-	-	T	rs144984452		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:14306693_14306694insT	ENST00000378053.3	-	2	1715_1716	c.1459_1460insA	c.(1459-1461)ctafs	p.L487fs	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Frame_Shift_Ins_p.L487fs|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	487	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAATAGGTAGAGGTTGCTGGTT	0.455													26	89	---	---	---	---					
PCNT	5116	broad.mit.edu	37	21	47821563	47821563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47821563delG	ENST00000359568.5	+	26	4997	c.4890delG	c.(4888-4890)tcfs	p.S1630fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCTCCTTCGGGCAGCCCTC	0.562													39	70	---	---	---	---					
OR11H1	81061	broad.mit.edu	37	22	16449523	16449523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:16449523delG	ENST00000252835.4	-	1	282	c.282delC	c.(280-282)ccfs	p.P94fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CCAACATCTTGGGAACTGTAG	0.408													8	57	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73962264	73962265	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:73962264_73962265insA	ENST00000373468.1	-	3	2778_2779	c.2127_2128insT	c.(2125-2130)ttagggfs	p.LG709fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.LG709fs			Q5QGS0	K2022_HUMAN	KIAA2022	709					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTGGCCCCTTAAACTCTGTGT	0.431													39	26	---	---	---	---					
