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
TNFRSF4	7293	broad.mit.edu	37	1	1149428	1149428	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:1149428G>A	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.T27M			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAGCCCCGTCACGGTGCT	0.726												
KAZN	23254	broad.mit.edu	37	1	15370623	15370623	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:15370623C>T	uc001avm.4	+	3	975	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	KAZN_uc009vog.1_Missense_Mutation_p.R232W|KAZN_uc001avo.2_Missense_Mutation_p.R226W|KAZN_uc001avp.2_Missense_Mutation_p.R138W|KAZN_uc001avq.2_Missense_Mutation_p.R138W|KAZN_uc001avr.2_Missense_Mutation_p.R135W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	232	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAGGACAACCGGATGAAGGA	0.677												
HP1BP3	50809	broad.mit.edu	37	1	21106920	21106921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:21106920_21106921insT	uc001bdy.1	-	0	113_114	c.13_14insA	c.(13-15)acgfs	p.T5fs	HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc001bdw.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.3_Frame_Shift_Ins_p.T5fs	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ACCTTGAGACGTATCAGTCGCC	0.475												
ARID1A	8289	broad.mit.edu	37	1	27092731	27092731	+	Missense_Mutation	SNP	A	A	G	rs141432631		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:27092731A>G	uc001bmv.1	+	8	3125	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	918					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACCCCAATATGAATCAAGG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
RNF19B	127544	broad.mit.edu	37	1	33408041	33408042	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:33408041_33408042insGC	uc010oho.2	-	6	1424_1425	c.1424_1425insGC	c.(1423-1425)gccfs	p.A475fs	RNF19B_uc001bwm.4_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.2_Frame_Shift_Ins_p.A474fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	475						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTCTTGAGGGCTCTCCAGGC	0.475												
FAM159A	348378	broad.mit.edu	37	1	53099192	53099192	+	Silent	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:53099192G>C	uc001cuf.3	+	0	127	c.27G>C	c.(25-27)gtG>gtC	p.V9V	FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	9						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CGAGCTACGTGAGCGCAGAGC	0.751												
WDR63	126820	broad.mit.edu	37	1	85559260	85559260	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85559260A>T	uc001dkt.3	+	8	1168	c.977A>T	c.(976-978)cAg>cTg	p.Q326L	WDR63_uc009wcl.3_Missense_Mutation_p.Q287L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	326										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGAGTACCAGTCCTTTACC	0.438												
WDR63	126820	broad.mit.edu	37	1	85592202	85592202	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85592202G>A	uc001dkt.3	+	19	2312	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	WDR63_uc009wcl.3_Silent_p.P668P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	707										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGACTGGACCGCTCCTTCAGT	0.423												
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423												
TDRKH	11022	broad.mit.edu	37	1	151748582	151748582	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:151748582T>C	uc009wnb.1	-	7	1389	c.1207A>G	c.(1207-1209)Agg>Ggg	p.R403G	TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.4_Missense_Mutation_p.R399G|TDRKH_uc001ezc.4_Missense_Mutation_p.R358G|TDRKH_uc001eza.4_Missense_Mutation_p.R403G|TDRKH_uc001ezd.4_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	403	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGAGCCCTGAGGTCCTTC	0.537												
CR2	1380	broad.mit.edu	37	1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:207643227G>A	uc001hfw.3	+	5	1124	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_uc001hfv.3_Nonsense_Mutation_p.W335*|CR2_uc009xch.3_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	335	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.W335*(2)		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						CTGGGACCTGGAGTGGCCCTG	0.522												
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:247920937C>T	uc010pza.2	-	0	772	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512												
HKDC1	80201	broad.mit.edu	37	10	71025477	71025477	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:71025477C>T	uc001jpf.4	+	16	2642	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L	HKDC1_uc010qje.2_Silent_p.L700L|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	837					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGTGCTGGCCTGGCCGCTAT	0.642												
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:89692905G>A	uc001kfb.3	+	4	1421	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PDZD7	79955	broad.mit.edu	37	10	102789812	102789812	+	Silent	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:102789812G>T	uc001ksn.3	-	1	415	c.165C>A	c.(163-165)ccC>ccA	p.P55P	PDZD7_uc021pxc.1_Silent_p.P55P|PDZD7_uc001kso.2_Silent_p.P55P|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	55						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGATTCCGCGGGGGGGCCCGT	0.662												
HPS6	79803	broad.mit.edu	37	10	103827208	103827208	+	Silent	SNP	C	C	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:103827208C>G	uc001kuj.3	+	0	2085	c.1977C>G	c.(1975-1977)ctC>ctG	p.L659L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	659						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTGGCCCTCGGCCCCTCCA	0.617									Hermansky-Pudlak syndrome			
KIAA1598	57698	broad.mit.edu	37	10	118728190	118728190	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:118728190C>T	uc021pzk.1	-	2	643	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KIAA1598_uc009xyw.3_Missense_Mutation_p.V49I|KIAA1598_uc001lcz.4_Missense_Mutation_p.V49I|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Missense_Mutation_p.V19I	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	49					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGTTTTTTAACGGCTTCATCT	0.323												
SYCE1	93426	broad.mit.edu	37	10	135370273	135370273	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:135370273C>A	uc001lno.2	-	7	623	c.518G>T	c.(517-519)tGg>tTg	p.W173L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	173					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTGGAAGTCCCAGAGGTCCTT	0.567												
DENND5A	23258	broad.mit.edu	37	11	9171674	9171674	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:9171674G>A	uc001mhl.3	-	14	2946	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DENND5A_uc001mhk.3_Missense_Mutation_p.L240F|DENND5A_uc010rbw.2_Missense_Mutation_p.L897F|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	897	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCTGGAAAGTAACTTTTTT	0.517												
OR4C11	219429	broad.mit.edu	37	11	55371464	55371464	+	Missense_Mutation	SNP	C	C	T	rs146220981	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:55371464C>T	uc010rii.2	-	0	411	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGTTGGGTAACGCAAGGGCTT	0.458												
SLC43A3	5553	broad.mit.edu	37	11	57156544	57156544	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156544G>A	uc001nkc.3	-	2	379	c.305C>T	c.(304-306)cCt>cTt	p.P102L	SLC43A3_uc001nkd.3_Missense_Mutation_p.P102L|SLC43A3_uc001nke.3_Missense_Mutation_p.P382L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGGCACCCAGGGATGCCCAC	0.532												
SLC43A3	5553	broad.mit.edu	37	11	57156546	57156546	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156546G>A	uc001nkc.3	-	2	377	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC43A3_uc001nkd.3_Silent_p.I101I|SLC43A3_uc001nke.3_Silent_p.I381I	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GGCACCCAGGGATGCCCACCA	0.537												
MS4A14	84689	broad.mit.edu	37	11	60184319	60184319	+	Silent	SNP	C	C	T	rs147367847	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:60184319C>T	uc001npj.3	+	4	2443	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	MS4A14_uc001npi.3_Silent_p.A514A|MS4A14_uc001npn.3_Silent_p.A364A|MS4A14_uc001npk.3_Silent_p.A609A|MS4A14_uc001npl.3_Silent_p.A364A|MS4A14_uc001npm.3_Silent_p.A364A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	626	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGTTCAAGCCGAAGGACAGC	0.458												
MEN1	4221	broad.mit.edu	37	11	64572600	64572600	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:64572600C>T	uc001obj.3	-	8	1344	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.G424D|MEN1_uc001obl.3_Missense_Mutation_p.G384D|MEN1_uc001obm.3_Missense_Mutation_p.G419D|MEN1_uc001obn.3_Missense_Mutation_p.G424D|MEN1_uc001obo.3_Missense_Mutation_p.G424D|MEN1_uc001obq.3_Missense_Mutation_p.G424D|MEN1_uc001obr.3_Missense_Mutation_p.G424D	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	424			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.L414_E425del(2)|p.G419fs*26(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTTGCAGATGCCGTCGTAGAA	0.637			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated			
KDM4E	390245	broad.mit.edu	37	11	94758834	94758834	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:94758834A>G	uc010ruf.1	+	0	413	c.113A>G	c.(112-114)cAa>cGa	p.Q38R		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	38	JmjN.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						ATGGAGTCCCAAGGCGCACAT	0.463												
ATM	472	broad.mit.edu	37	11	108183214	108183214	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:108183214A>G	uc001pkb.1	+	39	6380	c.5995A>G	c.(5995-5997)Ata>Gta	p.I1999V	ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1999	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGAAACTGGAATAAGTTTACA	0.328			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
IFLTD1	160492	broad.mit.edu	37	12	25699396	25699396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:25699396T>C	uc010sji.1	-	3	648	c.403A>G	c.(403-405)Aag>Gag	p.K135E	IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc001rgs.2_Missense_Mutation_p.K114E|IFLTD1_uc010sjj.2_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	114						intermediate filament	structural molecule activity	p.L134F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTAAGTTTCTTTGAATCACCA	0.373												
CPNE8	144402	broad.mit.edu	37	12	39268300	39268300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:39268300T>A	uc001rls.1	-	1	196	c.112A>T	c.(112-114)Aga>Tga	p.R38*		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	38	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AATGTGTCTCTGTCAAGAAGA	0.264												
DIP2B	57609	broad.mit.edu	37	12	51102260	51102260	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:51102260A>G	uc001rwv.3	+	21	2720	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C	DIP2B_uc009zlt.3_Missense_Mutation_p.Y285C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	855						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTGTATTTTATGATGAGCGC	0.448												
SDR9C7	121214	broad.mit.edu	37	12	57324008	57324008	+	Splice_Site	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:57324008A>G	uc010sqw.2	-	2	704	c.560_splice	c.e2+1	p.R187_splice		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	187						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGTTACCTTATGCTG	0.537												
TUBA3C	7278	broad.mit.edu	37	13	19748215	19748215	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr13:19748215T>A	uc009zzj.3	-	4	1246	c.1141A>T	c.(1141-1143)Acc>Tcc	p.T381S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	381					'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)		ATGGCCGTGGTGTTGCTCAGC	0.627												
AHNAK2	113146	broad.mit.edu	37	14	105413630	105413630	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr14:105413630G>T	uc010axc.1	-	6	8278	c.8158C>A	c.(8158-8160)Cac>Aac	p.H2720N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2720						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)			TCGGGAACGTGGCCCTCTGGG	0.602												
SKOR1	390598	broad.mit.edu	37	15	68118619	68118619	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:68118619C>T	uc002aqy.1	+	1	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	151					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCGCCGCTGCGGCATGATCA	0.662												
ADAMTS7	11173	broad.mit.edu	37	15	79083051	79083051	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:79083051G>A	uc002bej.4	-	5	1200	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGGATGGGCATCCCCCTT	0.592												
OR4F15	390649	broad.mit.edu	37	15	102358715	102358715	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:102358715G>A	uc010uts.2	+	0	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCTCTTGGGGGCACTGAGATG	0.458												
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr16:4242554C>T	uc002cvz.4	-	5	1035	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	800	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.R341H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512												
ZFP3	124961	broad.mit.edu	37	17	4995064	4995064	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:4995064A>G	uc002gaq.3	+	1	390	c.265A>G	c.(265-267)Aat>Gat	p.N89D	ZFP3_uc021tog.1_Missense_Mutation_p.N89D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCGGGAGAATAATGAGAGTGA	0.468												
ZNF287	57336	broad.mit.edu	37	17	16455757	16455757	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:16455757T>C	uc021trd.1	-	5	2317	c.1699A>G	c.(1699-1701)Aat>Gat	p.N567D	ZNF287_uc002gqi.2_Missense_Mutation_p.N567D	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	560					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CCACATTCATTACATTTATAA	0.353												
RAI1	10743	broad.mit.edu	37	17	17697187	17697187	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:17697187G>A	uc002grm.3	+	2	1394	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	RAI1_uc002grn.1_Missense_Mutation_p.A309T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	309	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAAACCTCGCCAAGTATCA	0.627												
KRT37	8688	broad.mit.edu	37	17	39577227	39577227	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:39577227T>C	uc002hwp.1	-	6	1300	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	418	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACAGGGATTGCAGGGGAG	0.547												
STXBP4	252983	broad.mit.edu	37	17	53237217	53237217	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:53237217G>A	uc002iuf.1	+	17	1814	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	536						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCTATCTCGCTCAGAGGAG	0.438												
CBX2	84733	broad.mit.edu	37	17	77758112	77758112	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:77758112G>A	uc002jxc.3	+	4	928	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	290					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGACCTGAAGGTGAGGA	0.637												
SPPL2B	56928	broad.mit.edu	37	19	2339146	2339146	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:2339146A>G	uc002lvs.3	+	4	618	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.3_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	180						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CATCATCTTCATCATGGCTGT	0.632												
FBXL12	54850	broad.mit.edu	37	19	9921852	9921852	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:9921852C>T	uc002mme.3	-	2	943	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	FBXL12_uc002mmd.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.3_Missense_Mutation_p.R181Q	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	234							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACGGTCAGCCGGATCTTGCG	0.667												
S1PR5	53637	broad.mit.edu	37	19	10625052	10625052	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:10625052G>A	uc021uox.1	-	0	636	c.636C>T	c.(634-636)taC>taT	p.Y212Y	S1PR5_uc002mot.2_Silent_p.Y212Y|S1PR5_uc002mou.2_Silent_p.Y212Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGATGCGCGCGTAGAGTGCAC	0.697												
USHBP1	83878	broad.mit.edu	37	19	17361108	17361108	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:17361108C>T	uc002nfs.1	-	12	2151	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	680							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCAGTGGCTTCGAGCACCGCC	0.657												
IRGC	56269	broad.mit.edu	37	19	44223763	44223763	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:44223763C>T	uc002oxh.3	+	1	1200	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	IRGC_uc021uvh.1_Silent_p.S351S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	351						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCAGTCGTCCGACGGCGCCA	0.657												
BCAM	4059	broad.mit.edu	37	19	45322375	45322375	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45322375G>A	uc002ozu.3	+	10	1443	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BCAM_uc002ozt.1_Missense_Mutation_p.D467N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	467	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGGAAGGAGACGAAGTCAC	0.597												
RELB	5971	broad.mit.edu	37	19	45515222	45515222	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45515222C>T	uc021uvq.1	+	3	323	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RELB_uc021uvp.1_Silent_p.N61N	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	64	Leucine-zipper.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCAAGGAGAACGGCTTCGGCC	0.577												
SPATS2L	26010	broad.mit.edu	37	2	201332021	201332021	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:201332021C>T	uc010zhc.2	+	9	1069	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	SPATS2L_uc002uvn.4_Silent_p.L286L|SPATS2L_uc010fst.3_Silent_p.L286L|SPATS2L_uc002uvo.4_Silent_p.L226L|SPATS2L_uc002uvp.4_Silent_p.L286L|SPATS2L_uc002uvq.4_Silent_p.L217L|SPATS2L_uc002uvr.4_Silent_p.L286L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	286						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGTGGAAATCCTGACTGCTCG	0.438												
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:204320201G>A	uc002vad.3	-	8	1486	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_uc002vae.3_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.3_Nonsense_Mutation_p.R473*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383												
DGKD	8527	broad.mit.edu	37	2	234344488	234344488	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:234344488G>A	uc002vui.1	+	5	623	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	204					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCCCACAAGCGCTGTGCTGTG	0.507												
COL6A3	1293	broad.mit.edu	37	2	238305417	238305417	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:238305417A>G	uc002vwl.2	-	1	329	c.44T>C	c.(43-45)cTc>cCc	p.L15P	COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.3_Missense_Mutation_p.L15P|COL6A3_uc002vwr.3_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	15					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)		TGAGAGAAAGAGGCAAAAGAC	0.423												
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363												
ID1	3397	broad.mit.edu	37	20	30193855	30193855	+	Splice_Site	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:30193855G>A	uc002wwg.2	+	2	532	c.427_splice	c.e2-1	p.A143_splice	ID1_uc002wwh.2_3'UTR|MIR3193_uc021wbt.1_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	Homo sapiens inhibitor of DNA binding 1, dominant negative helix-loop-helix protein (ID1), transcript variant 1, mRNA.	143					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGTTTTCACAGGCGGCATGCG	0.652												
FAM176C	59271	broad.mit.edu	37	21	33876254	33876254	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876254G>T	uc002ypr.1	+	6	1288	c.878G>T	c.(877-879)aGc>aTc	p.S293I	FAM176C_uc010glw.1_Missense_Mutation_p.S290I|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.S198I	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	293						integral to membrane	sugar binding										TTCGACCCAAGCGGATCGAAG	0.433												
FAM176C	59271	broad.mit.edu	37	21	33876277	33876277	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876277G>T	uc002ypr.1	+	6	1311	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	FAM176C_uc010glw.1_Missense_Mutation_p.D298Y|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.D206Y	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	301						integral to membrane	sugar binding										TCTGAGGAAAGATGGAATTCT	0.398												
NCAPG	64151	broad.mit.edu	37	4	17825349	17825349	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:17825349A>G	uc003gpp.3	+	8	1515	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	447					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TCTTGTTGAAAGACTACTCCA	0.323												
GC	2638	broad.mit.edu	37	4	72620754	72620754	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:72620754G>C	uc010iif.3	-	9	1257	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	GC_uc003hge.3_Missense_Mutation_p.L369V|GC_uc021xpb.1_Missense_Mutation_p.L369V	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	369	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)	AGGCTTTTTAGGGTTGGCTCA	0.388												
C4orf22	255119	broad.mit.edu	37	4	81504250	81504250	+	Silent	SNP	G	G	A	rs141410009	by1000genomes	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:81504250G>A	uc010ijp.3	+	2	295	c.246G>A	c.(244-246)acG>acA	p.T82T	C4orf22_uc003hmf.3_Silent_p.T82T	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	82								p.T82M(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTTACAGGACGCTAACAAGTG	0.383												
PRKG2	5593	broad.mit.edu	37	4	82125882	82125882	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:82125882C>T	uc003hmh.2	-	0	333	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	PRKG2_uc011cch.1_Missense_Mutation_p.R107Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	107					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGAGGTCTTCCGGTGGACCTC	0.562												
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:7709333C>T	uc003jdz.1	+	9	1478	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R471L(1)|p.R471Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587												
PIK3R1	5295	broad.mit.edu	37	5	67589298	67589298	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:67589298C>A	uc003jva.3	+	9	1866	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	PIK3R1_uc003jvc.3_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.3_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.3_Missense_Mutation_p.S108Y|PIK3R1_uc021xzn.1_Missense_Mutation_p.S66Y|PIK3R1_uc011crb.2_Missense_Mutation_p.S99Y	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	429					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATCCAGTATCCAAATACCAA	0.318			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PCDHB12	56124	broad.mit.edu	37	5	140588488	140588488	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:140588488C>T	uc003liz.3	+	0	198	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	3					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E2*(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATGGAAAACGGAGGGGCAG	0.493												
FOXI1	2299	broad.mit.edu	37	5	169533358	169533358	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:169533358G>C	uc003mai.4	+	0	442	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P	FOXI1_uc003maj.4_Missense_Mutation_p.A133P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	133					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred syndrome			
BEND3	57673	broad.mit.edu	37	6	107391897	107391897	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr6:107391897C>T	uc003prs.2	-	4	1148	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	166										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCGCAGTGACGAGGGGCTGT	0.567												
ANKIB1	54467	broad.mit.edu	37	7	91991520	91991520	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:91991520T>A	uc003ulw.2	+	9	1795	c.1419T>A	c.(1417-1419)caT>caA	p.H473Q		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	473							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAGCACATGAGCCTTGTG	0.368												
PRSS37	136242	broad.mit.edu	37	7	141536273	141536273	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:141536273G>T	uc003vws.2	-	4	1002	c.630C>A	c.(628-630)ttC>ttA	p.F210L	PRSS37_uc011krl.2_Missense_Mutation_p.F209L|PRSS37_uc011krk.2_Missense_Mutation_p.F197L|PRSS37_uc003vwt.2_Missense_Mutation_p.F197L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CCCCTCCCATGAAGTGCCCCA	0.512												
DOCK5	80005	broad.mit.edu	37	8	25199986	25199986	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:25199986G>C	uc003xeg.3	+	24	2717	c.2580G>C	c.(2578-2580)atG>atC	p.M860I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.3_Missense_Mutation_p.M430I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	860						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTAACTGCATGACCAAGATAG	0.468												
POTEA	340441	broad.mit.edu	37	8	43171085	43171085	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:43171085G>C	uc003xpz.1	+	6	999	c.956G>C	c.(955-957)aGt>aCt	p.S319T	POTEA_uc003xqa.1_Missense_Mutation_p.S273T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	319										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTAAAGGAAGTGAAAATAGT	0.303												
ADAMTSL1	92949	broad.mit.edu	37	9	18574217	18574217	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:18574217C>T	uc003zne.4	+	3	579	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	ADAMTSL1_uc003znb.3_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.4_Missense_Mutation_p.R143C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	143						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.T142M(1)		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)		AGATGGTACGCGTTGCTATAC	0.438												
IFNW1	3467	broad.mit.edu	37	9	21141168	21141168	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:21141168C>T	uc003zol.1	-	0	977	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	134					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCTAATTGCCCCAGCAGATT	0.527												
ST6GALNAC4	27090	broad.mit.edu	37	9	130674960	130674960	+	Splice_Site	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:130674960C>A	uc004bss.3	-	4	475	c.199_splice	c.e4-1	p.P67_splice	ST6GALNAC4_uc004bst.3_Splice_Site	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	67					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGACCAGCGGCTGCAGGGCAG	0.632												
ATP11C	286410	broad.mit.edu	37	X	138867417	138867417	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrX:138867417C>A	uc004faz.3	-	15	1742	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R548L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	548					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTCATACGTCGCCGGACAGC	0.338												
TSPY8	728395	broad.mit.edu	37	Y	9195471	9195471	+	Missense_Mutation	SNP	T	T	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrY:9195471T>G	uc004frr.2	+	0	20	c.20T>G	c.(19-21)cTg>cGg	p.L7R	FAM197Y2P_uc022cjb.1_5'Flank|TSPY8_uc004frq.2_Missense_Mutation_p.L7R|TSPY8_uc022cjc.1_Non-coding_Transcript	NM_001243721	NP_001230650	A6NGL4	A6NGL4_HUMAN	Homo sapiens testis specific protein, Y-linked 8 (TSPY8), mRNA.	7					nucleosome assembly	nucleus											GAGGGCTCGCTGACCTACTGG	0.716												
