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
MTHFD2	10797	broad.mit.edu	37	2	74432845	74432845	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:74432845G>T	ENST00000394053.2	+	2	195	c.115G>T	c.(115-117)Gtc>Ttc	p.V39F	MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V39F|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.V39F	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	39					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	p.V39F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGAAGCTGTTGTCATTTCTGG	0.468000													8	51					0.00307968	0.00327966	0.038147	1	0
DSP	1832	broad.mit.edu	37	6	7579653	7579653	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:7579653C>T	ENST00000379802.3	+	23	3571	c.3230C>T	c.(3229-3231)gCg>gTg	p.A1077V	DSP_ENST00000418664.2_Missense_Mutation_p.A1077V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1077	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.A1077V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCGAAGCTTGCGAGCCTGGAG	0.483000													4	134					0	0	0.009096	0	0
BRF1	2972	broad.mit.edu	37	14	105685542	105685542	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:105685542C>T	ENST00000546474.1	-	13	16364	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	BRF1_ENST00000547530.1_De_novo_Start_InFrame|BRF1_ENST00000440513.3_Missense_Mutation_p.V376M|BRF1_ENST00000327359.3_Missense_Mutation_p.V354M|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000446501.2_Missense_Mutation_p.V231M|BRF1_ENST00000379937.2_Missense_Mutation_p.V442M|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.V265M	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	469					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.V469L(1)|p.V469M(1)|p.V376L(1)|p.V376M(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCGGCCTTCACGCGGGCTTCC	0.642000													52	128					0	0	0.139131	0	0
MMRN1	22915	broad.mit.edu	37	4	90857417	90857417	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:90857417G>A	ENST00000394980.1	+	7	2905	c.2586G>A	c.(2584-2586)ttG>ttA	p.L862L	MMRN1_ENST00000264790.2_Silent_p.L862L|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L604L			Q13201	MMRN1_HUMAN	multimerin 1	862					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.L862L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGACTCGGTTGCAAGACATTG	0.358000													6	26					0	0	0.021553	0	0
DLX6	1750	broad.mit.edu	37	7	96636997	96636997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:96636997G>A	ENST00000518156.2	+	2	914	c.484G>A	c.(484-486)Gga>Aga	p.G162R	DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Missense_Mutation_p.G34R|DLX6_ENST00000007660.5_Missense_Mutation_p.G134R|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	44					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G134R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGGTTCAATGGAAAAGGGAA	0.478000													6	21					0	0	0.029380	0	0
MUC16	94025	broad.mit.edu	37	19	9045585	9045585	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:9045585C>T	ENST00000397910.4	-	5	36249	c.36046G>A	c.(36046-36048)Gag>Aag	p.E12016K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12018	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E12016K(1)|p.E7649K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACACTCTCAGAGGCCAAG	0.398000													18	15					0	0	0.038395	0	0
WDR90	197335	broad.mit.edu	37	16	703599	703599	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:703599G>A	ENST00000549091.1	+	12	1400	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R	WDR90_ENST00000293879.4_Silent_p.R436R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	436								p.R436R(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGTGATGCGGCTCTGGGACT	0.657000													50	59					0	0	0.139131	0	0
PTPRT	11122	broad.mit.edu	37	20	40735463	40735463	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr20:40735463T>G	ENST00000373198.4	-	25	3645	c.3410A>C	c.(3409-3411)gAg>gCg	p.E1137A	PTPRT_ENST00000373193.3_Missense_Mutation_p.E1121A|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1127A|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1128A|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1117A|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1118A|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1108A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E1140A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCCGGAGCTCACGCACGCA	0.577000													76	191					0	0	0.139131	0	0
NLRP3	114548	broad.mit.edu	37	1	247587530	247587530	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:247587530G>T	ENST00000366497.2	+	4	1565	c.785G>T	c.(784-786)cGa>cTa	p.R262L	NLRP3_ENST00000366496.2_Missense_Mutation_p.R262L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R262L|NLRP3_ENST00000391827.2_Missense_Mutation_p.R262L|NLRP3_ENST00000391828.3_Missense_Mutation_p.R262L|NLRP3_ENST00000348069.2_Missense_Mutation_p.R262L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	262	NACHT.		R -> L (in CINCA).|R -> P (in CINCA).|R -> W (in FCAS1 and MWS).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R262L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCCACTGTCGAGAGGTGAGC	0.547000													10	157					1.08611e-07	1.22001e-07	0.080935	1	0
ZSCAN12P1	221584	broad.mit.edu	37	6	28060389	28060389	+	RNA	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:28060389C>T	ENST00000529104.1	+	0	604					NR_024063.2																						CCAGGAGACACCTGGACCCTG	0.517000													3	2					0	0	0.115264	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	5					0	0	0.009096	0	0
CFB	629	broad.mit.edu	37	6	31901504	31901504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31901504C>T	ENST00000456570.1	+	3	429	c.374C>T	c.(373-375)tCg>tTg	p.S125L	C2_ENST00000442278.2_Missense_Mutation_p.S55L|C2_ENST00000418949.2_Missense_Mutation_p.S187L|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.S187L|C2_ENST00000452323.2_Missense_Mutation_p.S64L|CFB_ENST00000556679.1_Missense_Mutation_p.S125L|C2_ENST00000469372.1_Missense_Mutation_p.R19W			P00751	CFAB_HUMAN	complement factor B	201	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.S187L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACGGGGTCTTCGGAGCGGGAG	0.647000													63	74					0	0	0.139131	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	73					0	0	0.021553	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548921	75548921	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr10:75548921C>T	ENST00000604729.1	+	3	727	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R144W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R144W					zinc finger, SWIM-type containing 8									p.R144W(4)									CTTCCGCATGCGGGCTGTGAA	0.572000													4	117					0	0	0.009096	0	0
RASSF8	11228	broad.mit.edu	37	12	26217667	26217667	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:26217667C>A	ENST00000405154.2	+	3	539	c.340C>A	c.(340-342)Cct>Act	p.P114T	RASSF8_ENST00000282884.9_Missense_Mutation_p.P114T|RASSF8_ENST00000541490.1_Missense_Mutation_p.P114T|RASSF8_ENST00000542865.1_Missense_Mutation_p.P114T|RASSF8_ENST00000381352.3_Missense_Mutation_p.P114T	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	114					signal transduction			p.P114T(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TAAACTGAGGCCTCAGATTGA	0.458000													39	109					3.09479e-21	3.67786e-21	0.092188	1	0
LRIF1	55791	broad.mit.edu	37	1	111495013	111495013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:111495013C>T	ENST00000369763.4	-	2	883	c.493G>A	c.(493-495)Gtt>Att	p.V165I	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.V165I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGGTATTAACTACAATAAAA	0.418000													10	66					0	0	0.069234	0	0
ADAM29	11086	broad.mit.edu	37	4	175899049	175899049	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:175899049G>A	ENST00000359240.3	+	5	3043	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000445694.1_Silent_p.T791T|ADAM29_ENST00000404450.4_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.T791T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCAGTTGACGCCTTCCCAGA	0.572000													6	186					0	0	0.080935	0	0
LCE2B	26239	broad.mit.edu	37	1	152659331	152659331	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:152659331G>A	ENST00000368780.3	+	2	66	c.12G>A	c.(10-12)caG>caA	p.Q4Q	LCE2B_ENST00000417924.2_Silent_p.Q4Q	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	4	Cys-rich.				keratinization			p.Q4Q(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTGCCAGCAAAACCAGC	0.458000													4	223					0	0	0.009096	0	0
PARP8	79668	broad.mit.edu	37	5	50137809	50137809	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:50137809C>T	ENST00000281631.5	+	26	2630	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	PARP8_ENST00000514067.2_Silent_p.D782D|PARP8_ENST00000505697.2_Silent_p.D824D|PARP8_ENST00000505554.1_Silent_p.D803D|PARP8_ENST00000503750.2_Silent_p.D782D|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	824	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity	p.D824D(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCTATGAAGACGGCCAAGTGG	0.333000													4	28					0	0	0.009096	0	0
SCN2A	6326	broad.mit.edu	37	2	166245543	166245543	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166245543A>G	ENST00000375437.2	+	27	5517	c.5227A>G	c.(5227-5229)Aaa>Gaa	p.K1743E	SCN2A_ENST00000283256.6_Missense_Mutation_p.K1743E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K1743E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K1743E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1743					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1743E(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGCTCAGTTAAAGGAGACTG	0.458000													70	231					0	0	0.139131	0	0
USP8	9101	broad.mit.edu	37	15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:50782647C>A	ENST00000433963.1	+	15	2659	c.2159C>A	c.(2158-2160)cCa>cAa	p.P720Q	USP8_ENST00000307179.4_Missense_Mutation_p.P720Q|USP8_ENST00000396444.3_Missense_Mutation_p.P720Q|USP8_ENST00000425032.3_Missense_Mutation_p.P614Q			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P720Q(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478000													8	170					0.000274275	0.000295928	0.047766	1	0
USP35	57558	broad.mit.edu	37	11	77924751	77924751	+	Silent	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr11:77924751G>T	ENST00000529308.1	+	11	3210	c.2949G>T	c.(2947-2949)ccG>ccT	p.P983P	USP35_ENST00000526425.1_Silent_p.P714P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.P569P|USP35_ENST00000530267.1_Silent_p.P551P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	983					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P983P(1)|p.P739P(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACATCTCCGCACTGGGGGA	0.577000													25	126					1.10923e-09	1.29939e-09	0.076483	1	0
CSMD1	64478	broad.mit.edu	37	8	3076926	3076926	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:3076926T>C	ENST00000602557.1	-	30	5081	c.4526A>G	c.(4525-4527)tAt>tGt	p.Y1509C	CSMD1_ENST00000539096.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Missense_Mutation_p.Y1509C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y1509C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y1509C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y1508C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1509	CUB 9.					integral to membrane		p.Y1237C(1)|p.Y1508C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCCTTCATAGATGTGTAG	0.443000													4	8					0	0	0.009096	0	0
VWA7	80737	broad.mit.edu	37	6	31734406	31734406	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31734406T>C	ENST00000375686.3	-	14	2255	c.2018A>G	c.(2017-2019)gAg>gGg	p.E673G	VWA7_ENST00000447450.1_Silent_p.G666G|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.E673G	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	673						extracellular region		p.E673G(1)									TCCCACGGGCTCCAAGGGCAC	0.652000													29	56					0	0	0.116897	0	0
KRT73	319101	broad.mit.edu	37	12	53012081	53012081	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:53012081G>A	ENST00000305748.3	-	1	262	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	76	Gly-rich.|Head.					keratin filament	structural molecule activity	p.G76G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTGGCCCGGCCCCGGCCAA	0.637000													73	140					0	0	0.139131	0	0
SDK2	54549	broad.mit.edu	37	17	71433929	71433929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:71433929G>A	ENST00000392650.3	-	8	949	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H317Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	317	Ig-like C2-type 4.				cell adhesion	integral to membrane		p.H317Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCAGTGATGTGTCTTTCTGGC	0.587000													53	92					0	0	0.139131	0	0
MKI67	4288	broad.mit.edu	37	10	129900995	129900995	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr10:129900995C>T	ENST00000368654.3	-	13	9484	c.9109G>A	c.(9109-9111)Gca>Aca	p.A3037T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2677T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3037					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.A3037T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGCCTCTTGCCCTGGGAGCA	0.537000													5	219					0	0	0.014758	0	0
AKAP6	9472	broad.mit.edu	37	14	32902841	32902841	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:32902841T>A	ENST00000280979.4	+	2	312	c.142T>A	c.(142-144)Tct>Act	p.S48T	AKAP6_ENST00000557354.1_Missense_Mutation_p.S48T|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Missense_Mutation_p.S48T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	48					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.S48T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGACATGGACTCTGACCAGCA	0.547000													32	77					0	0	0.144211	0	0
AKT3	10000	broad.mit.edu	37	1	243668581	243668581	+	Silent	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:243668581T>C	ENST00000366539.1	-	14	1610	c.1410A>G	c.(1408-1410)caA>caG	p.Q470Q	AKT3_ENST00000336199.5_Intron|AKT3_ENST00000263826.5_Silent_p.Q470Q|AKT3_ENST00000366540.1_Intron			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	470	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q470Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTAGGAAAATTGAGGGAAAT	0.398000													23	21					0	0	0.069288	0	0
VCAN	1462	broad.mit.edu	37	5	82849280	82849280	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:82849280C>T	ENST00000265077.3	+	11	10156	c.9591C>T	c.(9589-9591)tgC>tgT	p.C3197C	VCAN_ENST00000512590.2_Silent_p.C1395C|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Silent_p.C1443C|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.C2210C|VCAN_ENST00000502527.2_Silent_p.C456C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3197	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.C3197C(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACGGGAATGCCGTCTGCAGG	0.478000													5	197					0	0	0.021553	0	0
NRXN1	9378	broad.mit.edu	37	2	50850546	50850546	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:50850546C>T	ENST00000404971.1	-	7	2478	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	NRXN1_ENST00000405472.3_Missense_Mutation_p.G347E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G347E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G347E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G347E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G347E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	347	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G381E(1)|p.G380E(1)|p.G347E(1)		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)			GGCCCCTGATCCCAAATTAAT	0.458000													43	94					0	0	0.117977	0	0
INPP4B	8821	broad.mit.edu	37	4	143159109	143159109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:143159109C>T	ENST00000513000.1	-	13	1177	c.744G>A	c.(742-744)tgG>tgA	p.W248*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.W248*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.W248*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.W248*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.W248*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	248					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.W248*(1)|p.W248S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAATTCGCATCCACTTATTGT	0.328000													18	32					0	0	0.038395	0	0
C19orf44	84167	broad.mit.edu	37	19	16612266	16612266	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:16612266G>T	ENST00000221671.3	+	2	819	c.663G>T	c.(661-663)ttG>ttT	p.L221F	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L221F	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	221								p.L221F(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGAAAGTATTGCTAGGAAGCT	0.433000													21	83					8.10497e-08	9.23066e-08	0.055883	1	0
CWH43	80157	broad.mit.edu	37	4	49040081	49040081	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:49040081A>T	ENST00000226432.4	+	13	1870	c.1687A>T	c.(1687-1689)Att>Ttt	p.I563F	CWH43_ENST00000513409.1_Missense_Mutation_p.I536F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	563					GPI anchor biosynthetic process	integral to membrane		p.I563F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACTGCAGGCTATTGCTGTTTC	0.358000													58	226					0	0	0.139131	0	0
MRPS36	92259	broad.mit.edu	37	5	68524147	68524147	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:68524147T>C	ENST00000256441.4	+	3	297	c.227T>C	c.(226-228)aTa>aCa	p.I76T	MRPS36_ENST00000512880.1_Missense_Mutation_p.I11T|MRPS36_ENST00000602380.1_Missense_Mutation_p.I11T|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	76					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.I76T(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACTGCAGAAATAATAAAAACA	0.388000													78	81					0	0	0.139131	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	95					0	0	0.009096	0	0
THSD4	79875	broad.mit.edu	37	15	72030241	72030241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:72030241C>T	ENST00000355327.3	+	11	1935	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Nonsense_Mutation_p.R601*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.R241*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	601						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R601*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTCCCCATCGACCGGACAA	0.597000													50	52					0	0	0.139131	0	0
INPP4B	8821	broad.mit.edu	37	4	143159110	143159110	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:143159110C>G	ENST00000513000.1	-	13	1176	c.743G>C	c.(742-744)tGg>tCg	p.W248S	INPP4B_ENST00000509777.1_Missense_Mutation_p.W248S|INPP4B_ENST00000508116.1_Missense_Mutation_p.W248S|INPP4B_ENST00000308502.4_Missense_Mutation_p.W248S|INPP4B_ENST00000262992.4_Missense_Mutation_p.W248S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	248					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.W248S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTCGCATCCACTTATTGTC	0.328000													19	32					0	0	0.043863	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35919962	35919962	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:35919962C>G	ENST00000325722.3	-	11	2015		c.e11+1		KIAA0319L_ENST00000373266.4_Splice_Site|KIAA0319L_ENST00000485551.1_Splice_Site	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like							cytoplasmic vesicle part|integral to membrane	protein binding	p.?(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGAGCTTACCAGGTTGCAC	0.498000													16	96					0	0	0.043863	0	0
GBP7	388646	broad.mit.edu	37	1	89637586	89637586	+	Silent	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:89637586C>A	ENST00000294671.2	-	2	171	c.33G>T	c.(31-33)gtG>gtT	p.V11V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	11						integral to membrane	GTP binding|GTPase activity	p.V11V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAGTGAGGCACACTGGGCCTG	0.483000													8	191					0.000274275	0.000295928	0.047766	1	0
TTN	7273	broad.mit.edu	37	2	179475790	179475790	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:179475790G>A	ENST00000589042.1	-	270	51290	c.51066C>T	c.(51064-51066)gcC>gcT	p.A17022A	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.A14454A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A8149A|TTN_ENST00000591111.1_Silent_p.A15381A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.A8082A|TTN_ENST00000460472.2_Silent_p.A7957A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15381	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A14454A(2)|p.A7957A(1)|p.A8082A(1)|p.A8149A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAAATTCCGGCATCTGCAC	0.393000													6	185					0	0	0.021553	0	0
DNAH9	1770	broad.mit.edu	37	17	11592918	11592918	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:11592918C>T	ENST00000262442.4	+	20	3847	c.3779C>T	c.(3778-3780)gCc>gTc	p.A1260V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1260V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1260V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGCTGGATGCCAGGCACATC	0.483000													4	138					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113678640	113678640	+	Silent	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113678640T>A	ENST00000297405.5	-	17	2926	c.2682A>T	c.(2680-2682)ccA>ccT	p.P894P	CSMD3_ENST00000455883.2_Silent_p.P790P|CSMD3_ENST00000343508.3_Silent_p.P854P|CSMD3_ENST00000352409.3_Silent_p.P894P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	894						integral to membrane|plasma membrane		p.P894P(1)|p.P854P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCACCACATGGGGCTGAAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	20					0	0	0.080935	0	0
FGG	2266	broad.mit.edu	37	4	155530879	155530879	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:155530879C>T	ENST00000404648.3	-	6	808	c.569G>A	c.(568-570)aGc>aAc	p.S190N	FGG_ENST00000336098.3_Missense_Mutation_p.S190N|FGG_ENST00000407946.1_Missense_Mutation_p.S198N|FGG_ENST00000405164.1_Missense_Mutation_p.S198N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	190	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S190N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTAAAGCCCGCTCTGTTTAGC	0.418000													26	98					0	0	0.099896	0	0
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:1803564C>T	ENST00000340107.4	+	7	998	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.741000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	14					0	0	0.080935	0	0
GABRB2	2561	broad.mit.edu	37	5	160721255	160721255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:160721255G>A	ENST00000274547.2	-	11	1589	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R260*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R357*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R420*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R420*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R458*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	458					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R420*(1)|p.R458*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCACATGTCGTTCCAGAGCA	0.527000													41	61					0	0	0.104719	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214416	3214416	+	RNA	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:3214416C>A	ENST00000573491.1	-	0	359																		p.S271*(1)									GTGGAGTCTTCGGACAAGGAC	0.547000													4	187					0.00909568	0.00956213	0.009096	1	0
TPTEP1	387590	broad.mit.edu	37	22	17119559	17119559	+	RNA	SNP	G	G	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr22:17119559G>C	ENST00000426585.1	+	0	371																											TTCCTTCGGAGTATCGTTCTA	0.348000													19	33					0	0	0.049695	0	0
CUL1	8454	broad.mit.edu	37	7	148496370	148496370	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:148496370G>A	ENST00000325222.4	+	21	2419	c.2140G>A	c.(2140-2142)Gcc>Acc	p.A714T	CUL1_ENST00000409469.1_Missense_Mutation_p.A714T|CUL1_ENST00000602748.1_Missense_Mutation_p.A714T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	714					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.A714T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCATAGGCGGCCATCGTGAG	0.483000													4	115					0	0	0.009096	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346900	140346900	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:140346900G>T	ENST00000289269.5	+	1	1081	c.549G>T	c.(547-549)caG>caT	p.Q183H	PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		183	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q183H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGTACAGACCTACGAGC	0.607000													15	14					3.27435e-08	3.78165e-08	0.119110	1	0
RSBN1	54665	broad.mit.edu	37	1	114308928	114308928	+	Silent	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:114308928A>G	ENST00000261441.5	-	7	2146	c.2083T>C	c.(2083-2085)Tta>Cta	p.L695L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	695						nucleus		p.L695L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGGCTAAGCTGCACACC	0.428000													15	131					0	0	0.119110	0	0
NLRP12	91662	broad.mit.edu	37	19	54327327	54327327	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:54327327G>A	ENST00000324134.6	-	1	270	c.102C>T	c.(100-102)acC>acT	p.T34T	NLRP12_ENST00000345770.5_Silent_p.T34T|NLRP12_ENST00000351894.4_Silent_p.T34T|NLRP12_ENST00000391773.1_Silent_p.T34T|NLRP12_ENST00000391775.3_Silent_p.T34T|NLRP12_ENST00000354278.3_Silent_p.T34T|NLRP12_ENST00000391772.1_Silent_p.T34T|NLRP12_ENST00000535162.1_Silent_p.T34T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	34	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.T34T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTCTGTCGCGGTCCCCAGGT	0.602000													51	98					0	0	0.139131	0	0
NEK11	79858	broad.mit.edu	37	3	130881325	130881325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:130881325C>T	ENST00000383366.4	+	11	1329	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	NEK11_ENST00000507910.1_Missense_Mutation_p.R346W|NEK11_ENST00000510688.1_Missense_Mutation_p.R346W|NEK11_ENST00000511262.1_Missense_Mutation_p.R346W|NEK11_ENST00000412440.2_Missense_Mutation_p.R198W|NEK11_ENST00000356918.4_Missense_Mutation_p.R346W|NEK11_ENST00000510769.1_Missense_Mutation_p.R241W|NEK11_ENST00000429253.2_Missense_Mutation_p.R346W|NEK11_ENST00000508196.1_Missense_Mutation_p.R346W	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	346					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.R346W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAAAGGATGCGGCTGAGGAA	0.493000													5	208					0	0	0.029380	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:16593762G>A	ENST00000443444.2	+	1	188	c.48G>A	c.(46-48)ccG>ccA	p.P16P	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Silent_p.P16P|CCDC144A_ENST00000399273.1_Silent_p.P16P|RP11-219A15.1_ENST00000448331.3_Silent_p.P16P|CCDC144A_ENST00000360524.8_Silent_p.P16P|CCDC144A_ENST00000340621.5_Silent_p.P16P			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672000													7	42					0	0	0.029380	0	0
SUPT3H	8464	broad.mit.edu	37	6	45332969	45332969	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:45332969T>C	ENST00000371459.1	-	2	235	c.70A>G	c.(70-72)Ata>Gta	p.I24V	RUNX2_ENST00000483243.1_Intron|RUNX2_ENST00000352853.5_Intron|RUNX2_ENST00000371438.1_Intron|RUNX2_ENST00000371436.6_Intron|SUPT3H_ENST00000459689.1_5'UTR|RUNX2_ENST00000465038.2_Intron|RUNX2_ENST00000541979.1_Intron|RUNX2_ENST00000576263.1_Intron|SUPT3H_ENST00000306867.5_Missense_Mutation_p.I24V|SUPT3H_ENST00000371460.1_5'UTR	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	106					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	p.I24V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GCAAAGCTTATAGACTTCCCT	0.333000													43	84					0	0	0.139131	0	0
HSF1	3297	broad.mit.edu	37	8	145533230	145533230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:145533230C>T	ENST00000528838.1	+	3	476	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	HSF1_ENST00000400780.4_Missense_Mutation_p.R41C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	106						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R106C(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ATGCTTCCTGCGTGGCCAGGA	0.612000													62	109					0	0	0.139131	0	0
OBSCN	84033	broad.mit.edu	37	1	228444535	228444535	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:228444535G>A	ENST00000570156.2	+	16	4843	c.4769G>A	c.(4768-4770)aGg>aAg	p.R1590K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1498K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R62K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1498K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	571	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R1498K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCACACGGAGGCTGGTGGTG	0.672000													4	45					0	0	0.009096	0	0
AMY2B	280	broad.mit.edu	37	1	104117881	104117881	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:104117881C>A	ENST00000361355.4	+	8	1531	c.915C>A	c.(913-915)gaC>gaA	p.D305E	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	305					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.D305E(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCCTTCTGACAGAGCACTTG	0.413000													116	233					3.79751e-50	4.57935e-50	0.139131	1	0
ABCC6	368	broad.mit.edu	37	16	16297362	16297362	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:16297362C>T	ENST00000205557.7	-	8	932	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	301					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.K301K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCCAGATGGCCTTCAGCAGTG	0.567000													23	53					0	0	0.134883	0	0
OR5M3	219482	broad.mit.edu	37	11	56237250	56237250	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr11:56237250G>T	ENST00000312240.2	-	1	764	c.724C>A	c.(724-726)Cat>Aat	p.H242N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H242N(1)		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)					GCTGTCAGATGGGACCCACAT	0.473000													3	52					0.115264	0.119641	0.115264	1	0
FAM65C	140876	broad.mit.edu	37	20	49211102	49211102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr20:49211102G>A	ENST00000327979.2	-	17	2599	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q730*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q734*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	730								p.Q730*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTTCCAGCTGTCCTGGGTAC	0.597000													8	226					0	0	0.080935	0	0
HMCN1	83872	broad.mit.edu	37	1	186143685	186143685	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:186143685A>G	ENST00000271588.4	+	103	16083	c.15854A>G	c.(15853-15855)tAt>tGt	p.Y5285C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y5285C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5285	EGF-like 5; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Y5285C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTGCAGATATAACCAGATA	0.408000													11	66					0	0	0.093190	0	0
FRS2	10818	broad.mit.edu	37	12	69968295	69968295	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:69968295A>C	ENST00000299293.2	+	10	1597	c.1087A>C	c.(1087-1089)Aag>Cag	p.K363Q	FRS2_ENST00000397997.2_Missense_Mutation_p.K363Q|FRS2_ENST00000549921.1_Missense_Mutation_p.K363Q|FRS2_ENST00000550389.1_Missense_Mutation_p.K363Q	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	363					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.K363Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAAGCCCGCAAGCTAAGTAG	0.388000													28	1357					0	0	0.076483	0	0
IZUMO4	113177	broad.mit.edu	37	19	2098100	2098100	+	Silent	SNP	C	C	T	rs146461646	byFrequency	TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:2098100C>T	ENST00000395307.2	+	5	1012	c.447C>T	c.(445-447)caC>caT	p.H149H	IZUMO4_ENST00000395301.3_Silent_p.H149H|IZUMO4_ENST00000588003.1_Intron	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	149						extracellular region		p.H149H(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						CAGACTCGCACGTCGCCTGCT	0.632000													7	349					0	0	0.029380	0	0
KNTC1	9735	broad.mit.edu	37	12	123041992	123041992	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:123041992C>T	ENST00000333479.7	+	17	1511	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	KNTC1_ENST00000450485.2_Missense_Mutation_p.A408V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	445					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.A445V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTGTGGATGCCAGTGAACAG	0.378000													3	56					0	0	0.115264	0	0
CSMD3	114788	broad.mit.edu	37	8	113668395	113668395	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113668395T>A	ENST00000297405.5	-	18	3236	c.2992A>T	c.(2992-2994)Att>Ttt	p.I998F	CSMD3_ENST00000455883.2_Missense_Mutation_p.I894F|CSMD3_ENST00000343508.3_Missense_Mutation_p.I958F|CSMD3_ENST00000352409.3_Missense_Mutation_p.I998F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	998	CUB 5.					integral to membrane|plasma membrane		p.I998F(1)|p.I958F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAATGAATCTTGAAACCA	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	68					0	0	0.119110	0	0
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													2	4	---	---	---	---					
SCN2A	6326	broad.mit.edu	37	2	166237618	166237619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166237618_166237619insT	ENST00000375437.2	+	25	4752_4753	c.4462_4463insT	c.(4462-4464)attfs	p.I1488fs	SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000357398.3_Frame_Shift_Ins_p.I1488fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1488					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGTCAAGACATTTTTATGACA	0.347													2	4	---	---	---	---					
AC114765.1	0	broad.mit.edu	37	2	221290621	221290622	+	RNA	INS	-	-	CCTTCCTT	rs148674567	by1000genomes	TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:221290621_221290622insCCTTCCTT	ENST00000432993.1	+	0	427																											ctttctttctcccttccttcct	0.361													3	4	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83818634	83818650	+	Frame_Shift_Del	DEL	GATTATTTCCTCTTCTT	GATTATTTCCTCTTCTT	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:83818634_83818650delGATTATTTCCTCTTCTT	ENST00000349129.2	+	5	586_602	c.326_342delGATTATTTCCTCTTCTT	c.(325-342)ggattatttcctcttcttfs	p.GLFPLL109fs	DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.GLFPLL109fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	109					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATAGTTCTGGATTATTTCCTCTTCTTGCAAATGCTG	0.318													14	110	---	---	---	---					
TCP10L2	401285	broad.mit.edu	37	6	167590551	167590552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167590551_167590552insC	ENST00000366832.2	+	4	558_559	c.427_428insC	c.(427-429)gctfs	p.A143fs		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	143										endometrium(1)|kidney(2)|lung(3)	6						GCCCAAATACGCTGGCCGCAAG	0.465													21	197	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167791512	167791513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167791512_167791513insG	ENST00000366827.2	-	4	558_559	c.347_348insC	c.(346-348)gctfs	p.A116fs	TCP10_ENST00000397829.4_Frame_Shift_Ins_p.A116fs			Q12799	TCP10_HUMAN	t-complex 10	143						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTTGCGGCCAGCGTATTTGGG	0.460													7	122	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128434455	128434457	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:128434455_128434457delGAA	ENST00000297788.4	+	2	437_439	c.70_72delGAA	c.(70-72)gaadel	p.E26del	CCDC136_ENST00000464832.1_In_Frame_Del_p.E76del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E26del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E76del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	26	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ggaagaggaggaagaagaggtgg	0.532													2	4	---	---	---	---					
MRM1	79922	broad.mit.edu	37	17	34958251	34958281	+	Frame_Shift_Del	DEL	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	-	rs141604685		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	ENST00000250156.7	+	1	251_281	c.12_42delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	c.(10-42)ctctcgaccgtccggggcgcgacctggggtcgcfs	p.LSTVRGATWGR4fs		NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	4					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCATTGCTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCCTCGTCACCC	0.697													14	97	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									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)		catcaccaccaccaccatcacc	0.579													4	5	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44896934	44896934	+	Splice_Site	DEL	G	G	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chrX:44896934delG	ENST00000377967.4	+	8	695	c.654delG	c.(652-654)cag>ca	p.Q218fs	KDM6A_ENST00000543216.1_Splice_Site_p.Q218fs|KDM6A_ENST00000382899.4_Splice_Site_p.Q218fs|KDM6A_ENST00000536777.1_Splice_Site_p.Q218fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	218					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGAAACCCAGGTAAGTATTT	0.303			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								23	24	---	---	---	---					
