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
ARHGAP11A	9824	broad.mit.edu	37	15	32926163	32926163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:32926163C>T	ENST00000361627.3	+	10	1987	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S233F|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.S422F|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S233F|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.S394F	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	422					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GGCTGCTTTTCTCCTAAAATC	0.333000													12	9					0	0	0.001855	0	0
ZNF578	147660	broad.mit.edu	37	19	53014785	53014785	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53014785C>T	ENST00000421239.2	+	6	1395	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGTCAAAATTCAACCCTTGTA	0.378000													22	45					0	0	0.001882	0	0
LGR6	59352	broad.mit.edu	37	1	202288196	202288196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:202288196G>A	ENST00000367278.3	+	18	2854	c.2765G>A	c.(2764-2766)gGg>gAg	p.G922E	LGR6_ENST00000255432.7_Missense_Mutation_p.G870E|LGR6_ENST00000439764.2_Missense_Mutation_p.G783E	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	922						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGCCAGAGGGGAACCACTTT	0.642000													31	38					0	0	0.009535	0	0
SCN10A	6336	broad.mit.edu	37	3	38793930	38793930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:38793930C>T	ENST00000449082.2	-	11	1534	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGATATCTCGGCCAGGGGA	0.587000													9	45					0	0	0.000978	0	0
ZFAT	57623	broad.mit.edu	37	8	135614396	135614396	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:135614396C>T	ENST00000520727.1	-	7	1829	c.1530G>A	c.(1528-1530)gaG>gaA	p.E510E	ZFAT_ENST00000520356.1_Silent_p.E510E|ZFAT_ENST00000520214.1_Silent_p.E510E|ZFAT_ENST00000429442.2_Silent_p.E510E|ZFAT_ENST00000523399.1_Silent_p.E460E|ZFAT_ENST00000377838.3_Silent_p.E522E	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGGGCAAACTCCTCTTCCA	0.612000													8	15					0	0	0.006214	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873959	48873959	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:48873959G>A	ENST00000394754.1	+	8	2982	c.2868G>A	c.(2866-2868)caG>caA	p.Q956Q	STON1-GTF2A1L_ENST00000405008.1_Silent_p.Q956Q|GTF2A1L_ENST00000403751.3_Silent_p.Q252Q|STON1-GTF2A1L_ENST00000402114.2_Silent_p.Q956Q|STON1-GTF2A1L_ENST00000394751.3_Silent_p.Q909Q|STON1-GTF2A1L_ENST00000309827.2_Silent_p.Q956Q|GTF2A1L_ENST00000430487.2_Silent_p.Q218Q|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		909					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCTCCACAGGTCTCTCAAA	0.448000													9	42					0	0	0.008291	0	0
COL4A5	1287	broad.mit.edu	37	X	107858227	107858227	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:107858227G>A	ENST00000328300.6	+	30	2726	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G828R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	828	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGACCACCAGGGATTCCTGG	0.433000									Alport syndrome with Diffuse Leiomyomatosis				17	45					0	0	0.007413	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202161	22202161	+	Splice_Site	SNP	T	T	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:22202161T>G	ENST00000344041.6	-	13	1137		c.e13-2		RAPGEF5_ENST00000401957.2_Splice_Site	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5						nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GCAGAATAGGTGCAAATGGTT	0.333000													12	17					0	0	0.001855	0	0
PTPRT	11122	broad.mit.edu	37	20	40827898	40827898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:40827898G>A	ENST00000373198.3	-	17	2774	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q825*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q828*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q825*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q815*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q815*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q834*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	825					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGACGTCCTGAGAACTAGAA	0.567000													164	333					0	0	0.003610	0	0
GLS	2744	broad.mit.edu	37	2	191795258	191795258	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:191795258G>T	ENST00000320717.3	+	13	1779	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	GLS_ENST00000409215.1_Missense_Mutation_p.K12N|GLS_ENST00000338435.4_Missense_Mutation_p.K507N|GLS_ENST00000409626.1_Missense_Mutation_p.K78N|GLS_ENST00000409428.1_Missense_Mutation_p.K12N	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	507					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCTGGATAAGATGGGCAACA	0.398000													43	43					1.00001e-27	1.14369e-27	0.009718	1	0
OR4D6	219983	broad.mit.edu	37	11	59224654	59224654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:59224654C>T	ENST00000300127.2	+	1	244	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCGTTTTTTCATCTATCACC	0.453000													45	87					0	0	0.009718	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284693	101284693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:101284693G>A	ENST00000309922.6	+	2	1222	c.1068G>A	c.(1066-1068)atG>atA	p.M356I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.M356I(1)									TAGATCAAATGATACGTATTT	0.378000													8	28					0	0	0.004482	0	0
OR2F1	26211	broad.mit.edu	37	7	143657103	143657103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:143657103C>T	ENST00000392899.1	+	1	77	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGAATTTATTCTCCTCGGCCT	0.448000													242	91					0	0	0.003610	0	0
CLCN2	1181	broad.mit.edu	37	3	184070900	184070900	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:184070900C>T	ENST00000265593.4	-	18	2235	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.R688R|CLCN2_ENST00000434054.2_Silent_p.R644R|CLCN2_ENST00000344937.7_Silent_p.R671R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	688						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGGTCTCCCCCCGGGCTGCTG	0.617000													76	107					0	0	0.003610	0	0
ATP2B3	492	broad.mit.edu	37	X	152815568	152815568	+	Silent	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:152815568C>A	ENST00000370186.1	+	10	1931	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	ATP2B3_ENST00000393842.1_Silent_p.G535G|ATP2B3_ENST00000370181.2_Silent_p.G535G|ATP2B3_ENST00000359149.3_Silent_p.G549G|ATP2B3_ENST00000349466.2_Silent_p.G549G|ATP2B3_ENST00000263519.4_Silent_p.G549G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	549					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGCTGGGCTTCGTCTTGG	0.617000													9	24					0.00448238	0.004861	0.004482	1	0
NDN	4692	broad.mit.edu	37	15	23931457	23931457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:23931457G>A	ENST00000331837.4	-	1	993	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	303					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTCCCGCAGAGCTCTGGCCTC	0.567000									Prader-Willi syndrome				33	48					0	0	0.009535	0	0
DBX1	120237	broad.mit.edu	37	11	20177834	20177834	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:20177834C>T	ENST00000524983.2	-	4	1246	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	DBX1_ENST00000227256.3_Missense_Mutation_p.G359R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	320					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAAGGTTTCCCGGGACTGCTC	0.677000													99	85					0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1507809	1507809	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:1507809G>A	ENST00000345913.4	+	14	2567	c.2476G>A	c.(2476-2478)Gcg>Acg	p.A826T	TPO_ENST00000382198.1_Missense_Mutation_p.A653T|TPO_ENST00000382201.3_Missense_Mutation_p.A769T|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.A653T|TPO_ENST00000337415.3_Missense_Mutation_p.A826T|TPO_ENST00000329066.4_Missense_Mutation_p.A826T|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	826	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A826T(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTGTCTCTGCGCGGACCCCTA	0.577000													19	37					0	0	0.008871	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419290	65419290	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:65419290C>T	ENST00000434382.2	+	2	427	c.424C>T	c.(424-426)Ccc>Tcc	p.P142S	VKORC1L1_ENST00000360768.3_3'UTR			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGGACTGACGCCCGACAGACT	0.428000													10	24					0	0	0.000978	0	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:8420609T>G	ENST00000337907.3	-	19	3592	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_ENST00000400908.2_Silent_p.P986P|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P718P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	986	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(4)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000													4	32					0	0	0.001984	0	0
ZNF212	7988	broad.mit.edu	37	7	148951046	148951046	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:148951046C>G	ENST00000335870.2	+	5	1156	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGGTGGGGGTCTTGTACACCT	0.577000													14	45					0	0	0.001855	0	0
DSPP	1834	broad.mit.edu	37	4	88534261	88534261	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:88534261A>C	ENST00000399271.1	+	4	1043	c.923A>C	c.(922-924)gAa>gCa	p.E308A	DSPP_ENST00000282478.7_Missense_Mutation_p.E308A|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	308					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TATGACCCTGAAGGCAAAGAA	0.428000													15	19					0	0	0.004990	0	0
SNX29	92017	broad.mit.edu	37	16	12662371	12662371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:12662371C>T	ENST00000566228.1	+	21	2396	c.2327C>T	c.(2326-2328)aCc>aTc	p.T776I	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Missense_Mutation_p.T391I	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	391					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCGACATCACCCCGCCCGGA	0.637000													11	49					0	0	0.001855	0	0
ABCC12	94160	broad.mit.edu	37	16	48138243	48138243	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:48138243G>A	ENST00000311303.3	-	20	3055	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	904	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGCCAGTGGGAGTCGTGTCA	0.478000													45	58					0	0	0.003610	0	0
ACOT11	26027	broad.mit.edu	37	1	55062987	55062987	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:55062987G>A	ENST00000371316.3	+	7	745	c.663G>A	c.(661-663)gaG>gaA	p.E221E	ACOT11_ENST00000343744.2_Silent_p.E221E|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	221	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCGTGTGGAGAGTGTGGAGC	0.602000													20	19					0	0	0.008871	0	0
RENBP	5973	broad.mit.edu	37	X	153206955	153206955	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153206955A>C	ENST00000393700.3	-	8	1001	c.921T>G	c.(919-921)gaT>gaG	p.D307E	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.D293E	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	307					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGTTATCAGCATCCTGGAAGT	0.582000													28	95					0	0	0.008361	0	0
INSC	387755	broad.mit.edu	37	11	15247312	15247312	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:15247312C>T	ENST00000379554.3	+	9	1295	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.R328C|INSC_ENST00000424273.1_Missense_Mutation_p.R328C|INSC_ENST00000528567.1_Missense_Mutation_p.R370C|INSC_ENST00000379556.3_Missense_Mutation_p.R370C|INSC_ENST00000530161.1_Missense_Mutation_p.R370C	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	417					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAATGCCATCCGTGTTCTCCT	0.572000													7	26					0	0	0.001984	0	0
DNAH3	55567	broad.mit.edu	37	16	21042506	21042506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:21042506C>T	ENST00000261383.3	-	37	5299	c.5300G>A	c.(5299-5301)tGg>tAg	p.W1767*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.W1767*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1767	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCATCCATCCACTCGTGGCT	0.502000													40	51					0	0	0.002522	0	0
PER1	5187	broad.mit.edu	37	17	8049412	8049412	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:8049412C>T	ENST00000317276.4	-	17	2319	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	PER1_ENST00000581082.1_Silent_p.R674R|PER1_ENST00000354903.5_Silent_p.R678R|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	694	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGGCTCCTTCCGTGGGGTGG	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					22	64					0	0	0.002299	0	0
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:41773651G>A	ENST00000394253.3	-	3	1400	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373006.1_Silent_p.L357L|USP49_ENST00000373010.1_Silent_p.L357L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602000													32	76					0	0	0.003271	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135222	23135222	+	RNA	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:23135222A>C	ENST00000390314.2	+	0	126																											AGCCTCGCTCAGTGTCCGGGT	0.567000													5	211					0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	31039854	31039854	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:31039854G>A	ENST00000355537.3	+	4	3475	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCCCATCAGACTTCTACAA	0.557000													31	42					0	0	0.002096	0	0
ARSI	340075	broad.mit.edu	37	5	149676950	149676950	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:149676950G>A	ENST00000328668.7	-	2	2116	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	513						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAGTCAGGATGAGCCCGG	0.637000													62	84					0	0	0.003610	0	0
ASIC4	55515	broad.mit.edu	37	2	220379942	220379942	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220379942C>T	ENST00000358078.4	+	1	891	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	ASIC4_ENST00000347842.3_Missense_Mutation_p.L293F|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	293						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GGTAGACATCCTCAACCGCAC	0.612000													11	41					0	0	0.000978	0	0
SDAD1	55153	broad.mit.edu	37	4	76877281	76877281	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:76877281C>A	ENST00000356260.5	-	21	1981	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	AC110615.1_ENST00000599764.1_Silent_p.V75V|SDAD1_ENST00000395711.4_Missense_Mutation_p.K584N	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	621					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCGGTCTGTCTTTCCAGCCT	0.348000													18	74					4.96729e-08	5.53776e-08	0.008871	1	0
ANO10	55129	broad.mit.edu	37	3	43474171	43474171	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:43474171T>C	ENST00000292246.3	-	12	2016	c.1846A>G	c.(1846-1848)Aag>Gag	p.K616E	ANO10_ENST00000350459.4_Missense_Mutation_p.K426E|ANO10_ENST00000396091.3_Missense_Mutation_p.K550E|ANO10_ENST00000414522.2_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.K505E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	616					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGCCGTGGCTTATCAGGTATG	0.423000													17	33					0	0	0.004990	0	0
SPEG	10290	broad.mit.edu	37	2	220333912	220333912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220333912G>A	ENST00000312358.7	+	13	3658	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1176					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATTCCCGAGGAGCCAGAGCA	0.662000													12	20					0	0	0.001368	0	0
ARID1A	8289	broad.mit.edu	37	1	27106861	27106861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27106861C>T	ENST00000324856.7	+	20	6843	c.6472C>T	c.(6472-6474)Cga>Tga	p.R2158*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1775*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R486*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1941*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2158					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	p.R2158*(3)	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)		CCTCAGTGACCGAAAGAACCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	59					0	0	0.003271	0	0
SLC22A2	6582	broad.mit.edu	37	6	160645756	160645756	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:160645756C>T	ENST00000366953.3	-	10	1840	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	528					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTTTCGGCTTCCTCGATGGTC	0.418000													42	46					0	0	0.002852	0	0
ARID1A	8289	broad.mit.edu	37	1	27100919	27100919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27100919C>T	ENST00000324856.7	+	18	4572	c.4201C>T	c.(4201-4203)Cag>Tag	p.Q1401*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1018*|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1401	Gln-rich.				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	p.Q1401*(1)	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)		GGGGCAGCCTCAGCAGCAGCA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	41					0	0	0.008291	0	0
OR2A5	393046	broad.mit.edu	37	7	143748039	143748039	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:143748039T>C	ENST00000408906.2	+	1	579	c.545T>C	c.(544-546)cTg>cCg	p.L182P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTGAAATCCTGTCTGTCCTC	0.567000													136	98					0	0	0.003610	0	0
SERPINB7	8710	broad.mit.edu	37	18	61459658	61459658	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:61459658G>A	ENST00000398019.2	+	3	525	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SERPINB7_ENST00000336429.2_Missense_Mutation_p.G67E|SERPINB7_ENST00000546027.1_Missense_Mutation_p.G67E|SERPINB7_ENST00000540675.1_Intron	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	67					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCAGGATATGGAAACTCTTCT	0.408000													10	50					0	0	0.006214	0	0
ZNF473	25888	broad.mit.edu	37	19	50549410	50549410	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:50549410C>T	ENST00000595661.1	+	6	2205	c.1710C>T	c.(1708-1710)acC>acT	p.T570T	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.T558T|ZNF473_ENST00000391821.2_Silent_p.T570T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.T570T			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	570					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAGAAAACCTTTAGCTGCA	0.443000													4	23					0	0	0.009096	0	0
VGLL3	389136	broad.mit.edu	37	3	87027686	87027686	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:87027686G>A	ENST00000398399.2	-	2	756	c.393C>T	c.(391-393)ccC>ccT	p.P131P	VGLL3_ENST00000383698.3_Silent_p.P131P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CTCGCCATAGGGGGGTTAGCC	0.512000													23	78					0	0	0.003954	0	0
PCDHA9	9752	broad.mit.edu	37	5	140358562	140358562	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140358562A>C	ENST00000532602.1	+	2	3456	c.2423A>C	c.(2422-2424)tAc>tCc	p.Y808S	PCDHA6_ENST00000527624.1_Missense_Mutation_p.Y544S|PCDHA6_ENST00000529310.1_Missense_Mutation_p.Y808S|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.Y865S|PCDHA1_ENST00000394633.3_Missense_Mutation_p.Y544S|PCDHA10_ENST00000307360.5_Missense_Mutation_p.Y806S|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.Y821S|PCDHA13_ENST00000289272.2_Missense_Mutation_p.Y808S|PCDHA11_ENST00000398640.2_Missense_Mutation_p.Y807S|PCDHA3_ENST00000522353.2_Missense_Mutation_p.Y808S|PCDHA2_ENST00000526136.1_Missense_Mutation_p.Y806S|PCDHA7_ENST00000525929.1_Missense_Mutation_p.Y795S|PCDHA12_ENST00000398631.2_Missense_Mutation_p.Y799S|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Y543S|PCDHA5_ENST00000529859.1_Missense_Mutation_p.Y794S|PCDHA1_ENST00000504120.2_Missense_Mutation_p.Y808S|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Y805S|PCDHA8_ENST00000531613.1_Missense_Mutation_p.Y808S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Y794S|PCDHA13_ENST00000409494.1_Missense_Mutation_p.Y808S|PCDHA4_ENST00000530339.1_Missense_Mutation_p.Y805S	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGGCGTTACTCTGCCTCC	0.458000													16	63					0	0	0.004990	0	0
SPON1	10418	broad.mit.edu	37	11	14284295	14284295	+	RNA	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:14284295G>A	ENST00000310358.7	+	0	2569							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCCAGTGGTCGGAATGTAACA	0.532000													18	33					0	0	0.007413	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22935342	22935342	+	RNA	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:22935342C>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							aaagaagacacaagtctgctt	0.388000													12	49					2.27111e-07	2.51783e-07	0.001368	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40259915	40259915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:40259915G>A	ENST00000263791.5	+	9	1431	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R463Q|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R463Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	463	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGCAAACCCGAGTTCGTTTT	0.488000													24	55					0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100681386	100681386	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:100681386T>A	ENST00000306151.4	+	3	6753	c.6689T>A	c.(6688-6690)aTg>aAg	p.M2230K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2230	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCATGCCGGTAGTT	0.502000													56	329					0	0	0.003610	0	0
SLC1A1	6505	broad.mit.edu	37	9	4567670	4567670	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:4567670A>G	ENST00000262352.3	+	6	721	c.483_splice	c.e6-1	p.Y162_splice		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	162					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AACATGCAGTACAAAACTAAG	0.388000													9	10					0	0	0.008291	0	0
TC2N	123036	broad.mit.edu	37	14	92266635	92266635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:92266635C>T	ENST00000435962.2	-	5	874	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	TC2N_ENST00000360594.5_Missense_Mutation_p.R184Q|TC2N_ENST00000340892.5_Missense_Mutation_p.R184Q|TC2N_ENST00000556018.1_Missense_Mutation_p.R184Q	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	184						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTGGATGAATCGCTGAGATGA	0.323000													3	7					0	0	0.004672	0	0
STAB1	23166	broad.mit.edu	37	3	52557513	52557513	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:52557513G>A	ENST00000321725.6	+	65	7287	c.7211G>A	c.(7210-7212)gGg>gAg	p.G2404E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2404	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCAGCCAGGGGAAGTTGCTT	0.632000													21	26					0	0	0.010504	0	0
EPHA4	2043	broad.mit.edu	37	2	222428599	222428599	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:222428599G>A	ENST00000281821.2	-	3	716	c.675C>T	c.(673-675)tcC>tcT	p.S225S	EPHA4_ENST00000392071.4_Silent_p.S174S|EPHA4_ENST00000409938.1_Silent_p.S225S|EPHA4_ENST00000409854.1_Silent_p.S225S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTTCCACCAGGGAAGACGTAT	0.512000													25	75					0	0	0.004656	0	0
OR51B4	79339	broad.mit.edu	37	11	5322610	5322610	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:5322610G>A	ENST00000380224.1	-	1	616	c.567C>T	c.(565-567)atC>atT	p.I189I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTAAACGTGATATCAGCAC	0.373000													24	47					0	0	0.005443	0	0
FAF1	11124	broad.mit.edu	37	1	51204578	51204578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:51204578G>A	ENST00000396153.2	-	6	959	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	FAF1_ENST00000371778.4_Missense_Mutation_p.L170F	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	170					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTGGTGTAAGGACATAAAGA	0.343000													7	23					0	0	0.004482	0	0
BCOR	54880	broad.mit.edu	37	X	39930225	39930225	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:39930225C>A	ENST00000342274.4	-	6	3601		c.e6+1		BCOR_ENST00000378444.4_Splice_Site|BCOR_ENST00000397354.3_Splice_Site|BCOR_ENST00000378455.4_Splice_Site	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTTACTTACATCTCTCACT	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						20	76					3.51602e-12	3.9755e-12	0.008871	1	0
ECE2	9718	broad.mit.edu	37	3	183967668	183967668	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:183967668C>T	ENST00000402825.3	+	1	186	c.186C>T	c.(184-186)atC>atT	p.I62I	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.I62I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	62	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGACCGTATCCTTGTGCTAG	0.677000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	43					0	0	0.007291	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57450009	57450009	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:57450009C>T	ENST00000287169.3	+	3	1582	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P21S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	74						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGGGATTTTCCCTCGAGGTAA	0.463000													25	42					0	0	0.006320	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:39171442G>A	ENST00000297668.6	-	8	1330	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_ENST00000377659.1_Silent_p.F419F|CNTNAP3_ENST00000358144.2_Silent_p.F331F|CNTNAP3_ENST00000377656.2_Silent_p.F419F|CNTNAP3_ENST00000323947.7_Silent_p.F419F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000													31	35					0	0	0.007291	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	35					0	0	0.004672	0	0
MYO7B	4648	broad.mit.edu	37	2	128387249	128387249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:128387249G>A	ENST00000389524.4	+	34	4629	c.4576G>A	c.(4576-4578)Ggg>Agg	p.G1526R	MYO7B_ENST00000428314.1_Missense_Mutation_p.G1526R|MYO7B_ENST00000409816.2_Missense_Mutation_p.G1526R|MYO7B_ENST00000409090.1_Missense_Mutation_p.G379R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1526	SH3 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTTCAAGAAGGGGGACCTGTT	0.607000													6	17					0	0	0.001168	0	0
CDH4	1002	broad.mit.edu	37	20	60504712	60504712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:60504712G>A	ENST00000360469.5	+	13	2139	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	CDH4_ENST00000543233.1_Missense_Mutation_p.G610E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	684	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTGGAGGCCGGGATGTATGAC	0.552000													45	55					0	0	0.003610	0	0
ACOX3	8310	broad.mit.edu	37	4	8418200	8418200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:8418200G>A	ENST00000356406.5	-	2	126	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ACOX3_ENST00000413009.2_Missense_Mutation_p.P17S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P17S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	17					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCCCCCTGGGGAATTCTGGG	0.587000													12	41					0	0	0.000978	0	0
MYO7B	4648	broad.mit.edu	37	2	128387248	128387248	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:128387248G>A	ENST00000389524.4	+	34	4628	c.4575G>A	c.(4573-4575)aaG>aaA	p.K1525K	MYO7B_ENST00000428314.1_Silent_p.K1525K|MYO7B_ENST00000409816.2_Silent_p.K1525K|MYO7B_ENST00000409090.1_Silent_p.K378K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1525	SH3 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTTCAAGAAGGGGGACCTGT	0.607000													6	17					0	0	0.001168	0	0
COL9A2	1298	broad.mit.edu	37	1	40777385	40777385	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:40777385C>T	ENST00000372748.3	-	9	516	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	140	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GTCCAGGGTCCCCCTGGAAGC	0.617000													38	53					0	0	0.004878	0	0
GRIA4	2893	broad.mit.edu	37	11	105774666	105774666	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:105774666C>T	ENST00000393127.2	+	8	1458	c.1012C>T	c.(1012-1014)Cca>Tca	p.P338S	GRIA4_ENST00000428631.2_Missense_Mutation_p.P338S|GRIA4_ENST00000530497.1_Missense_Mutation_p.P338S|GRIA4_ENST00000525187.1_Missense_Mutation_p.P338S|GRIA4_ENST00000282499.5_Missense_Mutation_p.P338S|GRIA4_ENST00000393125.2_Missense_Mutation_p.P338S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	338					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCTGCTGCTCCATGGGGCCA	0.418000													60	77					0	0	0.003610	0	0
CASP3	836	broad.mit.edu	37	4	185550459	185550459	+	Silent	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:185550459G>T	ENST00000308394.4	-	8	1063	c.801C>A	c.(799-801)tcC>tcA	p.S267S	CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Silent_p.S267S|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	267					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTGTGAGCATGGAAACAATAC	0.368000													21	123					1.9806e-07	2.20189e-07	0.002299	1	0
ARG1	383	broad.mit.edu	37	6	131904498	131904498	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:131904498G>A	ENST00000368087.3	+	7	808	c.669G>A	c.(667-669)aaG>aaA	p.K223K	ARG1_ENST00000476845.1_Intron|MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Silent_p.K231K			P05089	ARGI1_HUMAN	arginase 1	223					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TTAAAAGAAAGAAAAGGCCAA	0.393000													14	43					0	0	0.001855	0	0
PDILT	204474	broad.mit.edu	37	16	20376827	20376827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:20376827C>T	ENST00000302451.4	-	9	1400	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	384					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCCCTGGTCCCAGTATTTTG	0.448000													28	97					0	0	0.005443	0	0
PLCB4	5332	broad.mit.edu	37	20	9449296	9449296	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:9449296C>G	ENST00000378501.2	+	32	3306	c.3291C>G	c.(3289-3291)atC>atG	p.I1097M	PLCB4_ENST00000278655.4_Missense_Mutation_p.I1097M|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1109M|PLCB4_ENST00000378493.1_Missense_Mutation_p.I1097M|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I1097M|PLCB4_ENST00000378473.3_Missense_Mutation_p.I1109M	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1097					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATCTATCAAGAATAAAG	0.388000													9	87					0	0	0.004482	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651807	84651807	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:84651807G>A	ENST00000286744.5	+	21	3651	c.3427G>A	c.(3427-3429)Gaa>Aaa	p.E1143K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1143K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1143						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCATCCAGGAAGAGACACC	0.557000													10	27					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179598554	179598554	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179598554G>T	ENST00000589042.1	-	53	15786	c.15562C>A	c.(15562-15564)Caa>Aaa	p.Q5188K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q3944K|TTN_ENST00000591111.1_Missense_Mutation_p.Q4871K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4871	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCAGCTTGCAGGGTAACG	0.413000													21	74					2.89027e-11	3.25872e-11	0.002299	1	0
SPOCK1	6695	broad.mit.edu	37	5	136320844	136320844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:136320844C>T	ENST00000394945.1	-	9	1145	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G326R|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	326	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCTTTTCCCCTTACTCAGC	0.393000													26	50					0	0	0.004656	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840343	47840343	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:47840343T>A	ENST00000289672.2	-	54	8147	c.8097A>T	c.(8095-8097)aaA>aaT	p.K2699N	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2699					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGCAGTCTTTTTGGCTTC	0.507000													5	119					0	0	0.001168	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586668	15586668	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:15586668G>A	ENST00000292609.4	-	2	942	c.813C>T	c.(811-813)gcC>gcT	p.A271A	PGLYRP2_ENST00000340880.4_Silent_p.A271A			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	271					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATTGAGGAAGGCCATGGTTA	0.602000													7	50					0	0	0.004482	0	0
TPO	7173	broad.mit.edu	37	2	1457561	1457561	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:1457561C>T	ENST00000345913.4	+	6	669	c.578C>T	c.(577-579)cCc>cTc	p.P193L	TPO_ENST00000382198.1_Missense_Mutation_p.P193L|TPO_ENST00000382201.3_Missense_Mutation_p.P193L|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.P193L|TPO_ENST00000337415.3_Missense_Mutation_p.P193L|TPO_ENST00000329066.4_Missense_Mutation_p.P193L|TPO_ENST00000346956.3_Missense_Mutation_p.P193L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	193					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCTGGAACCCCGGCTTCTTG	0.607000													5	54					0	0	0.000602	0	0
EPHA7	2045	broad.mit.edu	37	6	93956618	93956618	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:93956618C>A	ENST00000369303.4	-	15	2802	c.2618G>T	c.(2617-2619)tGg>tTg	p.W873L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	873	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCCTTTTGCCAACAATCCAA	0.428000													34	22					1.62565e-12	1.84333e-12	0.002445	1	0
SMARCA2	6595	broad.mit.edu	37	9	2123808	2123808	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:2123808C>T	ENST00000382203.1	+	27	4061	c.3852C>T	c.(3850-3852)atC>atT	p.I1284I	SMARCA2_ENST00000349721.2_Silent_p.I1284I|SMARCA2_ENST00000357248.2_Silent_p.I1284I|SMARCA2_ENST00000382194.1_Silent_p.I1284I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1284					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTCCTGGATCATTAAGGATG	0.567000													15	10					0	0	0.004007	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													14	88					0	0	0.001855	0	0
LILRA3	11026	broad.mit.edu	37	19	54803141	54803141	+	Missense_Mutation	SNP	C	C	G	rs147561158	byFrequency	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:54803141C>G	ENST00000391745.1	-	8	903	c.587G>C	c.(586-588)cGg>cCg	p.R196P	LILRA3_ENST00000251390.3_Missense_Mutation_p.R179P|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGATGGCCCGGGATGACCC	0.567000													22	13					0	0	0.001882	0	0
TUBG2	27175	broad.mit.edu	37	17	40817713	40817713	+	Silent	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:40817713G>C	ENST00000251412.7	+	8	910	c.711G>C	c.(709-711)tcG>tcC	p.S237S		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	237					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCATCATGTCGGCCAGCACCA	0.632000													42	60					0	0	0.003214	0	0
TENM1	10178	broad.mit.edu	37	X	123518237	123518237	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:123518237C>T	ENST00000422452.2	-	30	6607	c.6544G>A	c.(6544-6546)Gat>Aat	p.D2182N	TENM1_ENST00000371130.3_Missense_Mutation_p.D2175N|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCATTCAGATCGTAACTATAA	0.433000													24	62					0	0	0.002780	0	0
MIR4732	100616385	broad.mit.edu	37	17	27188633	27188633	+	RNA	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:27188633C>T	ENST00000384886.1	-	0	3					NR_029685.1																						CAGCCAGGGCCCCACTGGGGG	0.562000													5	18					0	0	0.000602	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633863	153633863	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153633863G>A	ENST00000369809.1	-	4	676	c.47C>T	c.(46-48)gCc>gTc	p.A16V	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.A16V	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	16					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCCTGGGCCCCATTGGC	0.617000													4	9					0	0	0.009096	0	0
MOSPD2	158747	broad.mit.edu	37	X	14930383	14930383	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:14930383G>A	ENST00000380492.3	+	10	980	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	MOSPD2_ENST00000482354.1_Missense_Mutation_p.E298K|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	298						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TAACCCAACCGAATCTACTTC	0.303000													11	59					0	0	0.000978	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218069	244218069	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:244218069C>T	ENST00000358704.4	+	2	1142	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		AGGACTCGGTCTTGAGGGAGC	0.557000													30	26					0	0	0.002096	0	0
CTSG	1511	broad.mit.edu	37	14	25043691	25043691	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:25043691G>A	ENST00000216336.2	-	4	390	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	118	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GATTCCGTCTGACTCTTCTGC	0.642000													21	94					0	0	0.001882	0	0
STIL	6491	broad.mit.edu	37	1	47735459	47735459	+	Silent	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:47735459G>T	ENST00000360380.3	-	15	2826	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	STIL_ENST00000396221.2_Silent_p.S821S|STIL_ENST00000371877.3_Silent_p.S821S|STIL_ENST00000337817.5_Silent_p.S821S|STIL_ENST00000243182.6_Silent_p.S821S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	821					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGTCCTCACTGGAAATTTTGG	0.378000													11	55					6.40141e-05	7.01863e-05	0.000978	1	0
SGOL2	151246	broad.mit.edu	37	2	201436531	201436531	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:201436531C>T	ENST00000357799.4	+	7	1560	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	488					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAAAATGTACTGTGTAATAA	0.368000													73	92					0	0	0.003610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049364	47049364	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:47049364G>A	ENST00000450053.3	+	49	7745	c.7566G>A	c.(7564-7566)cgG>cgA	p.R2522R	NBEAL2_ENST00000383740.2_Silent_p.R771R|NBEAL2_ENST00000292309.5_Silent_p.R2338R	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2522							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGGCTCCCGGGACACCACGT	0.632000													7	21					0	0	0.003080	0	0
F10	2159	broad.mit.edu	37	13	113803759	113803759	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:113803759C>T	ENST00000375559.3	+	8	1433	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	465	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGACAGGTCCATGAAAACCA	0.572000													28	89					0	0	0.004656	0	0
ERCC2	2068	broad.mit.edu	37	19	45855574	45855574	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:45855574G>A	ENST00000391945.4	-	22	2160	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	ERCC2_ENST00000391944.3_Missense_Mutation_p.R617C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	695					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGATCCAGCGGGGCAGCTTC	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	40					0	0	0.002299	0	0
PRSS16	10279	broad.mit.edu	37	6	27216906	27216906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:27216906G>A	ENST00000230582.3	+	4	380	c.365G>A	c.(364-366)tGg>tAg	p.W122*	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	122					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCCAGCCTGGGGCGCCCTG	0.587000													35	45					0	0	0.003271	0	0
TOP3A	7156	broad.mit.edu	37	17	18178138	18178138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:18178138G>A	ENST00000321105.5	-	19	3198	c.2984C>T	c.(2983-2985)cCc>cTc	p.P995L	TOP3A_ENST00000540524.1_Missense_Mutation_p.P525L|TOP3A_ENST00000542570.1_Missense_Mutation_p.P900L	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	995					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGGACAAAAGGGACGGGTGTG	0.542000													31	78					0	0	0.003271	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184863	118184863	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:118184863G>A	ENST00000427715.2	+	11	1340	c.906G>A	c.(904-906)atG>atA	p.M302I	SLC30A8_ENST00000456015.2_Missense_Mutation_p.M351I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.M302I|SLC30A8_ENST00000519688.1_Missense_Mutation_p.M302I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	351				S -> C (in Ref. 3; CAD28545).	insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCATTCAGATGGAATCTCCAG	0.507000													167	247					0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59244987	59244987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:59244987C>T	ENST00000530162.1	+	1	142	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCTTATTTCTTTTCCTACT	0.423000													72	98					0	0	0.003610	0	0
SP140	11262	broad.mit.edu	37	2	231110646	231110646	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:231110646G>A	ENST00000392045.3	+	7	847	c.733G>A	c.(733-735)Gat>Aat	p.D245N	SP140_ENST00000417495.3_Missense_Mutation_p.D242N|SP140_ENST00000420434.3_Missense_Mutation_p.D245N|SP140_ENST00000343805.6_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.D225N|SP140_ENST00000486687.2_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	245					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTGCCTTATGATACAGAAGG	0.363000													6	22					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179407493	179407493	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179407493T>A	ENST00000589042.1	-	348	97312	c.97088A>T	c.(97087-97089)aAa>aTa	p.K32363I	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K23423I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K29795I|TTN_ENST00000591111.1_Missense_Mutation_p.K30722I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K23298I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K23490I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30722	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGGTTAATTTAGCTACTTT	0.413000													45	129					0	0	0.009718	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390752	61390752	+	RNA	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:61390752C>T	ENST00000544088.1	+	0	1360				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				gtttgctcatctgcaaaatag	0.443000													7	8					0	0	0.001984	0	0
USP40	55230	broad.mit.edu	37	2	234465632	234465632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:234465632G>A	ENST00000251722.6	-	5	532	c.415C>T	c.(415-417)Cga>Tga	p.R139*	USP40_ENST00000427112.2_Nonsense_Mutation_p.R139*|USP40_ENST00000450966.1_Nonsense_Mutation_p.R151*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	139					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAGGATTCGATTCAGTTCC	0.388000													21	27					0	0	0.002299	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088258	43088258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:43088258C>T	ENST00000359467.3	-	5	2254	c.2140G>A	c.(2140-2142)Gct>Act	p.A714T	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	714						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCTGTGTGAGCCCTGTGATGT	0.403000													40	32					0	0	0.006999	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910574	230910574	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:230910574G>A	ENST00000295190.4	-	4	1726	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	423						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGCATTAGGGAGAAATAACC	0.502000													23	27					0	0	0.004656	0	0
F8	2157	broad.mit.edu	37	X	154215575	154215575	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:154215575G>A	ENST00000360256.4	-	5	807	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	203	F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTGGCCAGACTCCCTGAA	0.348000													9	26					0	0	0.006214	0	0
DNER	92737	broad.mit.edu	37	2	230411694	230411694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:230411694C>T	ENST00000341772.4	-	5	1096	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	321	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTTCCTTTTCCTGAACACTC	0.448000													52	68					0	0	0.003610	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203277	140203277	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140203277C>T	ENST00000529859.1	+	1	1917	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T639T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.T639T	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGAGACCGAAGCACCGC	0.642000													20	42					0	0	0.010504	0	0
ARSE	415	broad.mit.edu	37	X	2853151	2853151	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:2853151A>C	ENST00000545496.1	-	12	1858	c.1567T>G	c.(1567-1569)Tgc>Ggc	p.C523G	ARSE_ENST00000381134.3_Missense_Mutation_p.C498G|ARSE_ENST00000540563.1_Missense_Mutation_p.C453G			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	498					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGCACGGGCAGACCTTTCTT	0.522000													13	13					0	0	0.004990	0	0
STPG2	285555	broad.mit.edu	37	4	99064228	99064228	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:99064228G>A	ENST00000295268.3	-	1	163	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TACCTGGTAGGATCCAGGACC	0.597000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.001368	0	0
RIBC1	158787	broad.mit.edu	37	X	53457879	53457879	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:53457879C>T	ENST00000375327.3	+	8	1236	c.1083C>T	c.(1081-1083)atC>atT	p.I361I		NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	361										lung(2)	2						ATTCAGTAATCTACACCAATC	0.498000													9	104					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179479461	179479461	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179479461G>A	ENST00000589042.1	-	261	49004	c.48780C>T	c.(48778-48780)ctC>ctT	p.L16260L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.L7320L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L13692L|TTN_ENST00000591111.1_Silent_p.L14619L|TTN_ENST00000460472.2_Silent_p.L7195L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.L7387L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14619	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCACATCGAGGAAGATTT	0.408000													11	20					0	0	0.001368	0	0
STAG2	10735	broad.mit.edu	37	X	123205126	123205126	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:123205126T>A	ENST00000371160.1	+	25	2776	c.2486T>A	c.(2485-2487)aTt>aAt	p.I829N	STAG2_ENST00000354548.5_Missense_Mutation_p.I760N|STAG2_ENST00000371157.3_Missense_Mutation_p.I829N|STAG2_ENST00000371145.3_Missense_Mutation_p.I829N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.I829N|STAG2_ENST00000218089.9_Missense_Mutation_p.I829N			Q8N3U4	STAG2_HUMAN	stromal antigen 2	829					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTCAGCTTTATTTTGGATCAT	0.368000													28	103					0	0	0.007291	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734378	20734378	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:20734378C>T	ENST00000382148.3	-	6	829	c.493G>A	c.(493-495)Gat>Aat	p.D165N	KCNIP4_ENST00000359001.5_Missense_Mutation_p.D128N|KCNIP4_ENST00000382149.4_5'UTR|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Missense_Mutation_p.D156N|KCNIP4_ENST00000509207.1_Missense_Mutation_p.D128N|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D169N|KCNIP4_ENST00000382152.2_Missense_Mutation_p.D190N	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	190	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCCATCATATCGTATATTGCT	0.378000													7	31					0	0	0.004482	0	0
ZNF195	7748	broad.mit.edu	37	11	3381179	3381179	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:3381179G>A	ENST00000354599.6	-	4	947	c.843C>T	c.(841-843)ccC>ccT	p.P281P	ZNF195_ENST00000429541.2_Silent_p.P285P|ZNF195_ENST00000526601.1_Silent_p.P334P|ZNF195_ENST00000399602.4_Silent_p.P353P|ZNF195_ENST00000343338.7_Silent_p.P285P|ZNF195_ENST00000005082.9_Silent_p.P330P|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATATTTGCAGGGTTTTTCCT	0.418000													49	99					0	0	0.003610	0	0
FCRL2	79368	broad.mit.edu	37	1	157745580	157745580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:157745580C>T	ENST00000361516.3	-	2	85	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	FCRL2_ENST00000392274.3_Missense_Mutation_p.V13I|FCRL2_ENST00000368181.4_Missense_Mutation_p.V13I	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	13					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCAGTGACTGCATCTGTG	0.428000													13	27					0	0	0.004007	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223009	140223009	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140223009C>T	ENST00000531613.1	+	1	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.I701I|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1												p.I701I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.662000													35	78					0	0	0.004878	0	0
SCFD1	23256	broad.mit.edu	37	14	31169460	31169460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:31169460C>T	ENST00000458591.2	+	16	1633	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	SCFD1_ENST00000421551.3_Missense_Mutation_p.S410F|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000544052.2_Missense_Mutation_p.S402F|SCFD1_ENST00000541123.1_Missense_Mutation_p.S284F|SCFD1_ENST00000396629.2_Missense_Mutation_p.S377F	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	469					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAGCACCTTCTGAGGTATGT	0.358000													15	60					0	0	0.002450	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498708	31498708	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:31498708C>T	ENST00000330498.3	+	6	661	c.642C>T	c.(640-642)atC>atT	p.I214I	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	214					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGCCTGCATCCTCATGGGTT	0.706000													48	85					0	0	0.003610	0	0
EVC2	132884	broad.mit.edu	37	4	5624705	5624705	+	Missense_Mutation	SNP	C	C	T	rs144420242	byFrequency	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:5624705C>T	ENST00000310917.2	-	14	2551	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	EVC2_ENST00000344408.5_Missense_Mutation_p.R687H|EVC2_ENST00000344938.1_Missense_Mutation_p.R687H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	687						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592000													19	34					0	0	0.006122	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74387715	74387715	+	RNA	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:74387715T>A	ENST00000429810.2	-	0	528																											GATGGTAGAGTTTGTTTGAGT	0.483000													10	69					0	0	0.000978	0	0
PDZD4	57595	broad.mit.edu	37	X	153069986	153069986	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153069986G>A	ENST00000164640.4	-	8	1323	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	PDZD4_ENST00000393758.2_Missense_Mutation_p.P303S|PDZD4_ENST00000544474.1_Missense_Mutation_p.P269S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	378						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCCCGGGGAAAGAGGAGG	0.642000													7	30					0	0	0.004482	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057948	114057948	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:114057948C>T	ENST00000462705.1	-	12	2732	c.1911G>A	c.(1909-1911)acG>acA	p.T637T	ZBTB20_ENST00000393785.2_Silent_p.T637T|ZBTB20_ENST00000471418.1_Silent_p.T637T|ZBTB20_ENST00000481632.1_Silent_p.T637T|ZBTB20_ENST00000464560.1_Silent_p.T637T|ZBTB20_ENST00000357258.3_Silent_p.T637T|ZBTB20_ENST00000474710.1_Silent_p.T710T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGTCCCCTCCGTGCAGGCCA	0.632000													24	31					0	0	0.002299	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458414	45458414	+	RNA	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:45458414C>A	ENST00000548424.1	+	0	448																											GCTCCTGGTCCAGTATGGCAC	0.517000													10	10					0.00621372	0.00672027	0.006214	1	0
NCK2	8440	broad.mit.edu	37	2	106498299	106498299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:106498299C>T	ENST00000233154.4	+	4	1184	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.P248S|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	248	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGCCTCGTCCCCAAAAACTA	0.637000													21	49					0	0	0.002299	0	0
VNN2	8875	broad.mit.edu	37	6	133072552	133072552	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:133072552G>A	ENST00000326499.6	-	5	1056	c.932C>T	c.(931-933)tCg>tTg	p.S311L	VNN2_ENST00000525270.1_Missense_Mutation_p.S258L|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	311	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAGGCAAGCGAGGATAGGGG	0.438000													40	30					0	0	0.003214	0	0
RAD51C	5889	broad.mit.edu	37	17	56787223	56787223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:56787223C>T	ENST00000337432.4	+	5	780	c.709C>T	c.(709-711)Cga>Tga	p.R237*	RAD51C_ENST00000583539.1_Nonsense_Mutation_p.R237*	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	237					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.R237*(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATTTAGGTTCGACTAGTGAT	0.368000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				34	90					0	0	0.004289	0	0
HEG1	57493	broad.mit.edu	37	3	124720797	124720797	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:124720797G>A	ENST00000311127.4	-	11	3483	c.3416C>T	c.(3415-3417)aCg>aTg	p.T1139M		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1139						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTCAAATAGCGTCACATTGGA	0.498000													11	23					0	0	0.000978	0	0
CROCC	9696	broad.mit.edu	37	1	17256819	17256819	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17256819C>T	ENST00000375541.5	+	6	729	c.660C>T	c.(658-660)atC>atT	p.I220I	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	220					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGCCCTCATCCGGCTGGAGG	0.677000													6	15					0	0	0.001984	0	0
MAP4K3	8491	broad.mit.edu	37	2	39542498	39542498	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:39542498G>A	ENST00000263881.3	-	13	1274	c.950C>T	c.(949-951)tCa>tTa	p.S317L	MAP4K3_ENST00000341681.5_Missense_Mutation_p.S317L|MAP4K3_ENST00000437545.1_Missense_Mutation_p.S254L|MAP4K3_ENST00000536018.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	317					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTACTTGTTGAGTGAATTCT	0.313000													12	23					0	0	0.001855	0	0
CEACAM1	634	broad.mit.edu	37	19	43031363	43031363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:43031363C>T	ENST00000161559.6	-	2	388	c.254G>A	c.(253-255)gGa>gAa	p.G85E	LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.G85E|CEACAM1_ENST00000352591.5_Missense_Mutation_p.G85E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G85E|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G85E|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G45E|CEACAM1_ENST00000599389.1_Missense_Mutation_p.G85E|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G85E	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	85	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TTGTTGAGTTCCTATTGCATA	0.507000													21	214					0	0	0.005443	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74387714	74387714	+	RNA	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:74387714G>A	ENST00000429810.2	-	0	529																											TGATGGTAGAGTTTGTTTGAG	0.483000													10	70					0	0	0.000978	0	0
ZNF160	90338	broad.mit.edu	37	19	53572054	53572054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53572054G>A	ENST00000601421.1	-	3	2501	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	ZNF160_ENST00000418871.1_Missense_Mutation_p.S578L|ZNF160_ENST00000429604.1_Missense_Mutation_p.S578L|ZNF160_ENST00000599056.1_Missense_Mutation_p.S578L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	578					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCAAGTTGTGATGTTTGAGC	0.403000													33	53					0	0	0.004878	0	0
TANC2	26115	broad.mit.edu	37	17	61498424	61498424	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:61498424A>T	ENST00000424789.2	+	25	5085	c.5081A>T	c.(5080-5082)aAa>aTa	p.K1694I	TANC2_ENST00000389520.4_Missense_Mutation_p.K1704I|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1694							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGATTGACCAAAGAGGATCTT	0.572000													29	160					0	0	0.006320	0	0
KCNN3	3782	broad.mit.edu	37	1	154698427	154698427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:154698427G>A	ENST00000271915.3	-	5	1981	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	KCNN3_ENST00000358505.2_Missense_Mutation_p.H243Y|KCNN3_ENST00000361147.4_Missense_Mutation_p.H251Y	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	561						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGAAGTTATGAACGTGCTTC	0.567000													17	16					0	0	0.007413	0	0
LRP6	4040	broad.mit.edu	37	12	12300476	12300476	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:12300476G>A	ENST00000261349.4	-	15	3297	c.3221C>T	c.(3220-3222)aCc>aTc	p.T1074I	LRP6_ENST00000543091.1_Missense_Mutation_p.T1074I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1074	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGAAGATTGGTAAAATACAT	0.378000													52	187					0	0	0.003610	0	0
NPHP1	4867	broad.mit.edu	37	2	110904336	110904336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:110904336G>A	ENST00000316534.4	-	14	1587	c.1514C>T	c.(1513-1515)cCa>cTa	p.P505L	NPHP1_ENST00000417665.1_Missense_Mutation_p.P448L|NPHP1_ENST00000445609.2_Missense_Mutation_p.P449L|NPHP1_ENST00000355301.4_Missense_Mutation_p.P386L|NPHP1_ENST00000393272.3_Missense_Mutation_p.P504L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	504					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTACTTTGCTGGAATAGGAAC	0.368000													10	54					0	0	0.008291	0	0
PPEF2	5470	broad.mit.edu	37	4	76788487	76788487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:76788487T>A	ENST00000286719.7	-	14	2091	c.1735A>T	c.(1735-1737)Aag>Tag	p.K579*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	579	EF-hand 1.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCATGCTTCTTAAATTCA	0.428000													6	33					0	0	0.001984	0	0
DLEC1	9940	broad.mit.edu	37	3	38138146	38138146	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:38138146C>T	ENST00000308059.6	+	15	2279	c.2258C>T	c.(2257-2259)cCt>cTt	p.P753L	DLEC1_ENST00000452631.2_Missense_Mutation_p.P753L|DLEC1_ENST00000346219.3_Missense_Mutation_p.P753L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	753					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCAGTAGAACCTTTCCAGGTT	0.483000													36	89					0	0	0.004289	0	0
LRP1B	53353	broad.mit.edu	37	2	141459374	141459374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:141459374C>T	ENST00000389484.3	-	40	7314	c.6343G>A	c.(6343-6345)Gat>Aat	p.D2115N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2115					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGTGGCATCATTCTTGTGG	0.428000										TSP Lung(27;0.18)			27	38					0	0	0.009535	0	0
ANK2	287	broad.mit.edu	37	4	114277622	114277622	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:114277622A>C	ENST00000357077.4	+	38	7901	c.7848A>C	c.(7846-7848)aaA>aaC	p.K2616N	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K2583N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2583					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAACCCAAACAAGAAGAAT	0.403000													22	66					0	0	0.002780	0	0
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:46030598C>T	ENST00000300557.2	-	2	253	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	1										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						TTTCAGTCGTCATGGCGCTCC	0.547000													49	82					0	0	0.003610	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212798	26212798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:26212798G>A	ENST00000379034.1	+	2	984	c.835G>A	c.(835-837)Gat>Aat	p.D279N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	279	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCTGAGTGGTGATAATGCGCT	0.547000													30	136					0	0	0.002836	0	0
ZNF43	7594	broad.mit.edu	37	19	22000696	22000696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:22000696G>A	ENST00000594012.1	-	6	719	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	ZNF43_ENST00000595461.1_Missense_Mutation_p.P69S|ZNF43_ENST00000354959.4_Missense_Mutation_p.P75S|ZNF43_ENST00000598288.1_Missense_Mutation_p.P69S|ZNF43_ENST00000598381.1_Missense_Mutation_p.P69S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTACCTGGGGGTTTGGCTACC	0.463000													33	101					0	0	0.003755	0	0
ADAM18	8749	broad.mit.edu	37	8	39467023	39467023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:39467023G>A	ENST00000265707.5	+	5	332	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ADAM18_ENST00000379866.1_Missense_Mutation_p.G96E|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.G96E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	96					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTACCAAGGATATGCTGCC	0.328000													14	20					0	0	0.004007	0	0
UMODL1	89766	broad.mit.edu	37	21	43547871	43547871	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:43547871A>T	ENST00000400427.1	+	19	4184	c.3788A>T	c.(3787-3789)aAc>aTc	p.N1263I	UMODL1_ENST00000408989.2_Missense_Mutation_p.N1335I|UMODL1_ENST00000408910.2_Missense_Mutation_p.N1207I|UMODL1_ENST00000400424.1_Missense_Mutation_p.N1135I|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1207						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCCTTTATCAACGACTCCATC	0.488000													12	61					0	0	0.001855	0	0
MYOF	26509	broad.mit.edu	37	10	95111307	95111307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:95111307G>A	ENST00000371501.4	-	34	3807	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1216*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.R1229*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1229*			Q9NZM1	MYOF_HUMAN	myoferlin	1229	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAATGCTTCGTCCTAAAAAT	0.428000													6	70					0	0	0.001168	0	0
CKAP5	9793	broad.mit.edu	37	11	46801774	46801774	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:46801774G>A	ENST00000529230.1	-	20	2449	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	CKAP5_ENST00000415402.1_Silent_p.L801L|CKAP5_ENST00000354558.3_Silent_p.L801L|CKAP5_ENST00000312055.5_Silent_p.L801L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	801					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTGGGATAGGAGGGCAGGCT	0.453000													18	29					0	0	0.008871	0	0
CLDN6	9074	broad.mit.edu	37	16	3065515	3065515	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3065515C>T	ENST00000396925.1	-	3	936	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	CLDN6_ENST00000328796.4_Missense_Mutation_p.A170T|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	170					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGGCCTGAGGCCGCCCAGCCC	0.657000													12	8					0	0	0.001368	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552525	1552525	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:1552525C>T	ENST00000381605.4	-	3	656	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	198	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGCGGGGTCCACGTTGGTC	0.557000													45	75					0	0	0.003610	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101883	82101883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:82101883G>A	ENST00000199936.4	+	2	567	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	125					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGGAATTGCGAAGAACCTGC	0.527000													21	22					0	0	0.008871	0	0
BRINP2	57795	broad.mit.edu	37	1	177242650	177242650	+	Silent	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:177242650G>T	ENST00000361539.4	+	5	1008	c.696G>T	c.(694-696)ctG>ctT	p.L232L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		232						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCGGTCCTCTGGGCTGCAGCA	0.488000													18	37					1.01871e-10	1.14533e-10	0.008871	1	0
PAPLN	89932	broad.mit.edu	37	14	73727416	73727416	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:73727416G>A	ENST00000427855.1	+	17	2087		c.e17-1		PAPLN_ENST00000555445.1_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein							proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTCTGCCTAGGTACGGGTGC	0.667000													23	40					0	0	0.002780	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845381	106845381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:106845381C>T	ENST00000276185.4	+	16	4211	c.4211C>T	c.(4210-4212)tCg>tTg	p.S1404L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1404						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGTGGTGTTTCGTGCCTGACC	0.617000													34	61					0	0	0.003755	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162174	142162174	+	RNA	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142162174A>G	ENST00000390371.3	-	0	144																											GCTCTGTCCTATCTTCAGGAT	0.502000													5	134					0	0	0.000602	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860877	30860877	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:30860877G>A	ENST00000403066.1	-	9	700	c.417C>T	c.(415-417)ttC>ttT	p.F139F	SEC14L3_ENST00000402286.1_Silent_p.F121F|SEC14L3_ENST00000540910.1_Silent_p.F121F|SEC14L3_ENST00000415957.2_Silent_p.F139F|SEC14L3_ENST00000401751.1_Silent_p.F139F|SEC14L3_ENST00000215812.4_Silent_p.F198F|SEC14L3_ENST00000539629.1_Silent_p.F139F			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	198	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGCCCACAGGGAACAGTTTGG	0.448000													53	59					0	0	0.003610	0	0
SUGP2	10147	broad.mit.edu	37	19	19135734	19135734	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:19135734G>A	ENST00000601879.1	-	3	1720	c.1423C>T	c.(1423-1425)Ctc>Ttc	p.L475F	SUGP2_ENST00000337018.6_Missense_Mutation_p.L475F|SUGP2_ENST00000456085.2_Missense_Mutation_p.L244F|SUGP2_ENST00000452918.2_Missense_Mutation_p.L475F|SUGP2_ENST00000600377.1_Missense_Mutation_p.L489F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	475					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCCGGCAGAGAGAGTTGGTG	0.507000													101	125					0	0	0.003610	0	0
TLR7	51284	broad.mit.edu	37	X	12904189	12904189	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:12904189C>T	ENST00000380659.3	+	3	701	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	188					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTATCGAAATCCTTGTTATGT	0.388000													11	59					0	0	0.000978	0	0
CNTD1	124817	broad.mit.edu	37	17	40956324	40956324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:40956324G>A	ENST00000588408.1	+	3	603	c.327G>A	c.(325-327)tgG>tgA	p.W109*	CNTD1_ENST00000588527.1_Nonsense_Mutation_p.W26*	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	109	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCAGAATTGGAGGGCTCTGA	0.473000													40	75					0	0	0.003214	0	0
SLC12A3	6559	broad.mit.edu	37	16	56938370	56938370	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:56938370G>A	ENST00000438926.2	+	25	2976	c.2947G>A	c.(2947-2949)Gtc>Atc	p.V983I	SLC12A3_ENST00000262502.5_Missense_Mutation_p.V973I|SLC12A3_ENST00000566786.1_Missense_Mutation_p.V982I|SLC12A3_ENST00000563236.1_Missense_Mutation_p.V974I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	974					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGCTCTCATCGTCATGTAAGT	0.602000													5	96					0	0	0.001168	0	0
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Silent	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:39623705T>C	ENST00000262039.4	+	20	2198	c.2112T>C	c.(2110-2112)ttT>ttC	p.F704F	PIK3C3_ENST00000398870.3_Silent_p.F641F|PIK3C3_ENST00000587402.1_Silent_p.F51F|PIK3C3_ENST00000593098.1_Silent_p.F189F|PIK3C3_ENST00000589056.1_Silent_p.F51F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338000										TSP Lung(28;0.18)			10	43					0	0	0.001368	0	0
SNX16	64089	broad.mit.edu	37	8	82736160	82736160	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:82736160G>A	ENST00000396330.2	-	5	984	c.478C>T	c.(478-480)Cca>Tca	p.P160S	SNX16_ENST00000345957.4_Missense_Mutation_p.P160S|SNX16_ENST00000353788.4_Missense_Mutation_p.P131S	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	160	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CGAAAACCTGGAAACATCTCT	0.328000													9	22					0	0	0.008291	0	0
LRRC16B	90668	broad.mit.edu	37	14	24530818	24530818	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:24530818C>T	ENST00000342740.5	+	27	2571	c.2417C>T	c.(2416-2418)cCc>cTc	p.P806L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	806										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTCACTGTGCCCCGGAACTTC	0.602000													11	38					0	0	0.002450	0	0
KAT7	11143	broad.mit.edu	37	17	47904851	47904851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:47904851C>T	ENST00000503935.2	+	15	2391	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	KAT7_ENST00000259021.4_Missense_Mutation_p.P608L|KAT7_ENST00000510819.1_Missense_Mutation_p.P439L|KAT7_ENST00000509773.1_Missense_Mutation_p.P498L|KAT7_ENST00000454930.2_Missense_Mutation_p.P469L|KAT7_ENST00000435742.2_Missense_Mutation_p.P422L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.P578L			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	608					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TGGACCCCTCCCAAGGGCACT	0.507000													16	39					0	0	0.004990	0	0
SESN2	83667	broad.mit.edu	37	1	28605701	28605701	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:28605701C>T	ENST00000253063.3	+	9	1626	c.1305C>T	c.(1303-1305)acC>acT	p.T435T		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	435					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGAAGACCACCCGAAGAA	0.522000													19	51					0	0	0.008871	0	0
OR2H1	26716	broad.mit.edu	37	6	29430220	29430220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:29430220G>A	ENST00000377136.1	+	4	1139	c.674G>A	c.(673-675)aGg>aAg	p.R225K	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.R225K|OR2H1_ENST00000377133.1_Missense_Mutation_p.R225K|OR2H1_ENST00000377132.1_Missense_Mutation_p.R225K|OR2H1_ENST00000442615.1_Missense_Mutation_p.R225K			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCAGTGCTGAGGATTAACTCT	0.532000													56	106					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36873681	36873681	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:36873681C>T	ENST00000301807.6	-	21	7508	c.5611G>A	c.(5611-5613)Gtg>Atg	p.V1871M	TRANK1_ENST00000429976.2_Missense_Mutation_p.V2421M|TRANK1_ENST00000428977.2_Missense_Mutation_p.V1871M	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2421					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCAGCACCACCCCACAGTGG	0.512000													26	93					0	0	0.002096	0	0
DSCAM	1826	broad.mit.edu	37	21	41423967	41423967	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:41423967C>T	ENST00000400454.1	-	30	5580	c.5103G>A	c.(5101-5103)acG>acA	p.T1701T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1701					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTGAGTGACCGTCAGGGACT	0.547000													40	64					0	0	0.006230	0	0
TUB	7275	broad.mit.edu	37	11	8111659	8111659	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:8111659C>T	ENST00000305253.4	+	4	540	c.299C>T	c.(298-300)cCc>cTc	p.P100L	TUB_ENST00000534099.1_Missense_Mutation_p.P51L|TUB_ENST00000299506.2_Missense_Mutation_p.P45L	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	45					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCAGGAGCCCCTGATGGTG	0.677000													13	10					0	0	0.002450	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087108	39087108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:39087108G>A	ENST00000400482.3	-	3	941	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R118W	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	118					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATGTCTCCCCGTATGTATGCG	0.453000													19	83					0	0	0.010504	0	0
GLP2R	9340	broad.mit.edu	37	17	9783717	9783717	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:9783717C>T	ENST00000262441.5	+	11	1681	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	GLP2R_ENST00000574745.1_Missense_Mutation_p.L210F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	390					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AACACTGGTCCTCATTCCTTT	0.413000													69	122					0	0	0.003610	0	0
KMT2A	4297	broad.mit.edu	37	11	118362000	118362000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:118362000C>T	ENST00000534358.1	+	14	4809	c.4786C>T	c.(4786-4788)Cat>Tat	p.H1596Y	KMT2A_ENST00000389506.5_Missense_Mutation_p.H1596Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.H1558Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCGCTGGGTCCATTCCAAATG	0.388000													22	63					0	0	0.004656	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	G	A	rs142245280		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	234					'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)		TGGAGGACACGATCTGCCCAA	0.567000													37	84					0	0	0.004878	0	0
BAGE2	85319	broad.mit.edu	37	21	11058339	11058339	+	RNA	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:11058339G>A	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)		AGGGGTAAAGGAGAGAAATCT	0.368000													4	105					0	0	0.000602	0	0
PI4K2B	55300	broad.mit.edu	37	4	25265404	25265404	+	Silent	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:25265404T>C	ENST00000264864.6	+	7	1200	c.1011T>C	c.(1009-1011)ctT>ctC	p.L337L	PI4K2B_ENST00000512921.1_Silent_p.L241L	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	337	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAGAATTCCTTATTAAAATAG	0.289000													18	84					0	0	0.001882	0	0
RIMS1	22999	broad.mit.edu	37	6	72889559	72889559	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:72889559C>T	ENST00000264839.7	+	5	753	c.753C>T	c.(751-753)gcC>gcT	p.A251A	RIMS1_ENST00000518273.1_Silent_p.A251A|RIMS1_ENST00000522291.1_Silent_p.A251A|RIMS1_ENST00000517960.1_Silent_p.A251A|RIMS1_ENST00000521978.1_Silent_p.A251A|RIMS1_ENST00000348717.5_Silent_p.A251A|RIMS1_ENST00000520567.1_Silent_p.A251A|RIMS1_ENST00000491071.2_Silent_p.A251A			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	251					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGCAGCAAGCCTTGGGGCCTG	0.557000													13	10					0	0	0.001855	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776330	27776330	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:27776330G>T	ENST00000358739.3	+	1	432	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CATCCAGGCCGTGCTACTGCC	0.572000													11	66					9.31168e-06	1.02661e-05	0.001855	1	0
ERMN	57471	broad.mit.edu	37	2	158178151	158178151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:158178151G>A	ENST00000410096.1	-	3	778	c.487C>T	c.(487-489)Cga>Tga	p.R163*	ERMN_ENST00000397283.2_Nonsense_Mutation_p.R176*|ERMN_ENST00000420719.2_Nonsense_Mutation_p.R143*|ERMN_ENST00000535935.1_Nonsense_Mutation_p.R57*	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTAGGTTTTCGAAATCCCAGC	0.418000													40	65					0	0	0.007835	0	0
CDH12	1010	broad.mit.edu	37	5	21752058	21752058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:21752058C>T	ENST00000382254.1	-	15	3259	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	CDH12_ENST00000504376.2_Missense_Mutation_p.D725N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D685N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGATCCACATCATTTTCCTGT	0.483000										HNSCC(59;0.17)			37	52					0	0	0.003755	0	0
CIITA	4261	broad.mit.edu	37	16	10997624	10997624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:10997624G>A	ENST00000324288.8	+	9	942	c.809G>A	c.(808-810)aGt>aAt	p.S270N	CIITA_ENST00000381835.5_Missense_Mutation_p.S221N|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	270					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCCCTCCCAGTGGATTCACT	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								40	43					0	0	0.007835	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326429	15326429	+	RNA	SNP	A	A	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:15326429A>T	ENST00000344693.5	-	0	778					NR_027270.1																						TTTCCATGGGAAGGTCCACGT	0.393000													23	62					0	0	0.007291	0	0
MED12L	116931	broad.mit.edu	37	3	150840679	150840679	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:150840679T>G	ENST00000474524.1	+	3	352	c.314T>G	c.(313-315)gTt>gGt	p.V105G	MED12L_ENST00000309237.4_Missense_Mutation_p.V105G|MED12L_ENST00000422248.2_Missense_Mutation_p.V105G|MED12L_ENST00000273432.4_Missense_Mutation_p.V105G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	105					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATTGGCTGGTTACTGCTCGA	0.363000													8	13					0	0	0.004482	0	0
CCDC116	164592	broad.mit.edu	37	22	21989511	21989511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:21989511C>T	ENST00000292779.3	+	4	1320	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	387										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGGAGGCTCCCCCTCCATGTC	0.607000													7	21					0	0	0.003080	0	0
ATP1B2	482	broad.mit.edu	37	17	7554890	7554890	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:7554890G>A	ENST00000250111.4	+	1	461	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	18					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGGAGTGGAAGGAGTTCGTGT	0.692000													9	8					0	0	0.006214	0	0
UNC93A	54346	broad.mit.edu	37	6	167721377	167721377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:167721377G>A	ENST00000230256.3	+	7	1262	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	UNC93A_ENST00000366829.2_Missense_Mutation_p.V321I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	363						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCAGATGCCGTCTGGCAGAC	0.607000													20	10					0	0	0.010504	0	0
HRC	3270	broad.mit.edu	37	19	49657367	49657367	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:49657367C>T	ENST00000252825.4	-	1	1314	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	HRC_ENST00000595625.1_Silent_p.E376E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	376					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCCTCTTCCTCATCTACAA	0.532000													11	85					0	0	0.000978	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861085	77861085	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:77861085G>A	ENST00000380835.2	-	6	1135	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	323					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						GACTACTTGAGAGATGCTGGC	0.443000													38	35					0	0	0.007835	0	0
PLVAP	83483	broad.mit.edu	37	19	17476249	17476249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:17476249C>T	ENST00000252590.4	-	3	1086	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	342						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGTCTGCCGGGAGCATTC	0.647000													12	48					0	0	0.001855	0	0
ALG13	79868	broad.mit.edu	37	X	110951458	110951458	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:110951458C>A	ENST00000394780.3	+	4	599	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ALG13_ENST00000251943.4_Missense_Mutation_p.P92H|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	196					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TTTCCTCTCCCTCTTACCCCC	0.473000													17	39					9.16793e-09	1.02495e-08	0.004990	1	0
OR10G4	390264	broad.mit.edu	37	11	123886915	123886915	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:123886915C>T	ENST00000320891.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562000													22	159					0	0	0.001882	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489115	73489115	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:73489115C>T	ENST00000314256.7	+	16	2412	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	KIAA0195_ENST00000579208.1_Missense_Mutation_p.S324F|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S683F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	673					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCGGCTCTCCTGTGTCACC	0.612000													37	58					0	0	0.004878	0	0
PRB4	5545	broad.mit.edu	37	12	11461583	11461583	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:11461583C>G	ENST00000279575.1	-	3	367	c.334G>C	c.(334-336)Ggt>Cgt	p.G112R	PRB4_ENST00000535904.1_Missense_Mutation_p.G112R|PRB4_ENST00000445719.2_Splice_Site_p.G112_splice	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	154	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGGTACCTTGGGACTGG	0.607000										HNSCC(22;0.051)			6	308					0	0	0.004482	0	0
KIF16B	55614	broad.mit.edu	37	20	16355048	16355048	+	Silent	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:16355048T>C	ENST00000354981.2	-	20	3361	c.3204A>G	c.(3202-3204)gaA>gaG	p.E1068E	KIF16B_ENST00000408042.1_Silent_p.E1068E|KIF16B_ENST00000378003.2_Silent_p.E294E|KIF16B_ENST00000355755.3_Silent_p.E1068E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1068	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGATTTCATATTCTAACCTAC	0.428000													35	74					0	0	0.005524	0	0
MEFV	4210	broad.mit.edu	37	16	3306468	3306468	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3306468G>A	ENST00000219596.1	-	1	159	c.120C>T	c.(118-120)atC>atT	p.I40I	MEFV_ENST00000339854.4_Silent_p.I40I|MEFV_ENST00000536379.1_Silent_p.I40I|MEFV_ENST00000541159.1_Silent_p.I40I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	40	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCTCCGGGGGATCCTGGAGT	0.592000													52	73					0	0	0.003610	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:202131505C>T	ENST00000358485.4	+	2	669	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CASP8_ENST00000392258.3_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F|CASP8_ENST00000432109.2_Missense_Mutation_p.S99F|CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	99	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493000										HNSCC(4;0.00038)			14	23					0	0	0.001855	0	0
DSCAM	1826	broad.mit.edu	37	21	42080602	42080602	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:42080602G>A	ENST00000400454.1	-	2	616	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	47	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGCTGCGGGGCAGGGCACC	0.592000													55	91					0	0	0.003610	0	0
LLGL1	3996	broad.mit.edu	37	17	18137691	18137691	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:18137691G>A	ENST00000316843.4	+	7	915	c.819G>A	c.(817-819)acG>acA	p.T273T		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	273					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTCCCAACGCTGCAGCCCA	0.617000													4	18					0	0	0.000602	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453447	20453447	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:20453447C>T	ENST00000377252.3	+	7	1675	c.834C>T	c.(832-834)gtC>gtT	p.V278V	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.V229V	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	278						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGAAAGTCGGACTGTCCG	0.428000													10	9					0	0	0.001855	0	0
GBP6	163351	broad.mit.edu	37	1	89844118	89844118	+	Missense_Mutation	SNP	G	G	A	rs144008165		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:89844118G>A	ENST00000370456.4	+	5	664	c.571G>A	c.(571-573)Ggt>Agt	p.G191S	GBP6_ENST00000535065.1_Missense_Mutation_p.G61S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	191							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAAGTTGAACGGTCACCCTAT	0.493000													24	79					0	0	0.003954	0	0
GLI2	2736	broad.mit.edu	37	2	121746991	121746991	+	Silent	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:121746991T>A	ENST00000452319.1	+	14	3561	c.3501T>A	c.(3499-3501)ccT>ccA	p.P1167P	GLI2_ENST00000361492.4_Silent_p.P1167P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1167					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCCTTTCCTCAGGGCAACC	0.627000													14	13					0	0	0.002450	0	0
MSR1	4481	broad.mit.edu	37	8	16007770	16007770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:16007770G>A	ENST00000350896.3	-	7	1146	c.949C>T	c.(949-951)Cga>Tga	p.R317*	MSR1_ENST00000355282.2_Nonsense_Mutation_p.R317*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R91*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.R317*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R335*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R317*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	317	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGGAGTCCTCGACTTCCAGGA	0.358000													17	38					0	0	0.007413	0	0
SLC23A1	9963	broad.mit.edu	37	5	138718905	138718905	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:138718905A>G	ENST00000353963.3	-	1	75		c.e1+1		SLC23A1_ENST00000503919.1_Splice_Site|SLC23A1_ENST00000348729.3_Splice_Site	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1						brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	agccccCAGCACCTGTGTCCG	0.647000													5	17					0	0	0.000602	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906605	32906605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:32906605C>T	ENST00000416244.2	-	2	387	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.E97K|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.E65K			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	65	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACCCCAAATTCGCAAGGGGCC	0.512000													41	75					0	0	0.006999	0	0
XRCC5	7520	broad.mit.edu	37	2	217002897	217002897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:217002897C>T	ENST00000392133.3	+	14	1798	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.P446L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	446	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATGCTCCCACCGGTGAG	0.398000								Non-homologous end-joining					5	17					0	0	0.000602	0	0
ZNF264	9422	broad.mit.edu	37	19	57724217	57724217	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:57724217C>T	ENST00000263095.6	+	4	2166	c.1752C>T	c.(1750-1752)acC>acT	p.T584T	ZNF264_ENST00000536056.1_Silent_p.T584T	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTCAGTTACCCTTCGAGAAC	0.438000													43	48					0	0	0.009718	0	0
ABCG1	9619	broad.mit.edu	37	21	43645804	43645804	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:43645804G>A	ENST00000398457.2	+	3	332	c.72G>A	c.(70-72)gaG>gaA	p.E24E	ABCG1_ENST00000361802.2_Silent_p.E22E|ABCG1_ENST00000343687.3_Silent_p.E33E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.E19E|ABCG1_ENST00000398449.3_Silent_p.E22E	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	22					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTGCAGAGATGACGGAGC	0.483000													31	86					0	0	0.002096	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				186	30					0	0	0.003610	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906563	48906563	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:48906563C>T	ENST00000508632.1	-	2	236	c.4G>A	c.(4-6)Gct>Act	p.A2T	OCIAD2_ENST00000273860.4_Missense_Mutation_p.A2T|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	2	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GACGCTGAAGCCATGATGACT	0.428000													19	31					0	0	0.008871	0	0
GSTCD	79807	broad.mit.edu	37	4	106640672	106640672	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:106640672C>T	ENST00000515279.1	+	3	1102	c.882C>T	c.(880-882)atC>atT	p.I294I	GSTCD_ENST00000394728.3_Silent_p.I294I|GSTCD_ENST00000394730.3_Silent_p.I207I|GSTCD_ENST00000360505.5_Silent_p.I294I|GSTCD_ENST00000507281.1_Silent_p.I207I|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	294	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGCCCTGTATCCATCATTTCT	0.403000													33	30					0	0	0.003271	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560359	44560359	+	Missense_Mutation	SNP	G	G	A	rs150911848		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:44560359G>A	ENST00000332567.4	-	1	1629	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	426					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTTAGCCGAATCCCAGGA	0.547000													20	94					0	0	0.007413	0	0
UBE2O	63893	broad.mit.edu	37	17	74387350	74387350	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:74387350G>A	ENST00000319380.7	-	18	3617	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1185							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCATCCTCAGGTTCTTGTTGG	0.682000													35	77					0	0	0.003755	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162184	142162184	+	RNA	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142162184T>C	ENST00000390371.3	-	0	134																											ATCTTCAGGATGCGGAATTTT	0.522000													5	135					0	0	0.000602	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598304	58598304	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:58598304G>C	ENST00000240727.6	-	5	1113	c.714C>G	c.(712-714)aaC>aaG	p.N238K	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.N294K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.N238K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.N103K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCTCTTCAGGTTCTCCTCGG	0.637000													6	58					0	0	0.001168	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040134	77040134	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:77040134C>T	ENST00000339142.2	+	3	639	c.84C>T	c.(82-84)ccC>ccT	p.P28P	C1QTNF1_ENST00000581774.1_Silent_p.P28P|C1QTNF1_ENST00000580454.1_Silent_p.P28P|C1QTNF1_ENST00000580474.1_Silent_p.P28P|C1QTNF1_ENST00000579760.1_Silent_p.P28P|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Silent_p.P28P|C1QTNF1_ENST00000354124.3_Silent_p.P38P|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000583904.1_Silent_p.P28P	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	28						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTCGTGTGCCCCATGTCCAGG	0.662000													28	41					0	0	0.006320	0	0
EPPK1	83481	broad.mit.edu	37	8	144940741	144940741	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:144940741C>T	ENST00000525985.1	-	2	6752	c.6681G>A	c.(6679-6681)gcG>gcA	p.A2227A				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCCCGCGATGCAGC	0.677000													4	105					0	0	0.009096	0	0
SP140	11262	broad.mit.edu	37	2	231155249	231155249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:231155249G>A	ENST00000392045.3	+	19	1909	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	SP140_ENST00000417495.3_Missense_Mutation_p.G485R|SP140_ENST00000420434.3_Missense_Mutation_p.G572R|SP140_ENST00000343805.6_Missense_Mutation_p.G539R|SP140_ENST00000350136.5_Missense_Mutation_p.G468R|SP140_ENST00000486687.2_Missense_Mutation_p.G523R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	599	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGGGTGAAGGGAATTTTACA	0.403000													14	48					0	0	0.003163	0	0
FBXO40	51725	broad.mit.edu	37	3	121340282	121340282	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:121340282G>A	ENST00000338040.4	+	3	420	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	2					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGTCCAGGGGAAAGCCCGCA	0.507000													45	65					0	0	0.003610	0	0
TBX20	57057	broad.mit.edu	37	7	35293197	35293197	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:35293197G>C	ENST00000408931.3	-	1	561	c.35C>G	c.(34-36)tCc>tGc	p.S12C		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	12						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCCCGAGAGGAGAGTTGGGG	0.642000													13	48					0	0	0.001855	0	0
AADAC	13	broad.mit.edu	37	3	151535193	151535193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:151535193G>A	ENST00000232892.6	+	2	304	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.D60N	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	60					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCATTTTATGGATTCCTTTAA	0.403000													11	31					0	0	0.001368	0	0
BDP1	55814	broad.mit.edu	37	5	70806692	70806692	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:70806692G>T	ENST00000358731.4	+	17	4036	c.3773G>T	c.(3772-3774)gGa>gTa	p.G1258V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1258	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGAAACTGGAAAAAGAGAC	0.358000													32	157					9.8876e-21	1.12758e-20	0.004878	1	0
TRBV5-5	28610	broad.mit.edu	37	7	142149132	142149132	+	RNA	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142149132C>A	ENST00000390372.3	-	0	145																											CTCTTGTGCCCAGAGATAGGA	0.517000													20	102					4.63292e-17	5.2683e-17	0.008871	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161019438	161019438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:161019438C>T	ENST00000368013.3	-	11	1782	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D311N|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D488N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	488					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGCCTGAGTCTGCCAGGGGA	0.562000													18	75					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9013898	9013898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:9013898G>A	ENST00000397910.4	-	33	38695	c.38492C>T	c.(38491-38493)tCc>tTc	p.S12831F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12833				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCACTGTGGAGGTCCCAGG	0.483000													6	16					0	0	0.001984	0	0
OR5B17	219965	broad.mit.edu	37	11	58125658	58125658	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:58125658C>T	ENST00000357377.3	-	1	884	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCTTCACGTCTTTGT	0.373000													52	65					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38816575	38816575	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:38816575C>G	ENST00000359357.3	+	35	4800	c.4546C>G	c.(4546-4548)Cag>Gag	p.Q1516E	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1733E|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1516E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGCTGCCTCAGGTAAATAT	0.378000													6	94					0	0	0.001168	0	0
ABCD2	225	broad.mit.edu	37	12	39967592	39967592	+	Silent	SNP	G	G	A	rs56388075		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:39967592G>A	ENST00000308666.3	-	9	2064	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	643	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCTTTCCTTCGACATCAATGC	0.358000													41	23					0	0	0.002852	0	0
CNPPD1	27013	broad.mit.edu	37	2	220039719	220039719	+	Silent	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220039719C>G	ENST00000409789.1	-	5	799	c.372G>C	c.(370-372)ctG>ctC	p.L124L	CNPPD1_ENST00000360507.5_Silent_p.L124L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	124					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCATGGAGATCAGGAACAAGT	0.547000													13	63					0	0	0.003163	0	0
DPYD	1806	broad.mit.edu	37	1	97981298	97981298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:97981298G>A	ENST00000370192.3	-	13	1824	c.1724C>T	c.(1723-1725)aCt>aTt	p.T575I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	575					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAGAGAGAAAGTTTTGGTGAG	0.328000													12	23					0	0	0.001368	0	0
C15orf54	400360	broad.mit.edu	37	15	39544531	39544531	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:39544531C>T	ENST00000318578.3	+	2	563	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.F65F|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	65										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CTCTCAGGTTCCTTTACATCG	0.438000													47	139					0	0	0.003610	0	0
C8orf47	203111	broad.mit.edu	37	8	99102126	99102126	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:99102126G>A	ENST00000318528.3	+	2	1240	c.881G>A	c.(880-882)gGa>gAa	p.G294E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	294	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAAGGTCCAGGAAACATGGAG	0.433000													11	39					0	0	0.000978	0	0
ALDH2	217	broad.mit.edu	37	12	112219760	112219760	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:112219760G>A	ENST00000546840.2	+	3	143	c.143G>A	c.(142-144)gGa>gAa	p.G48E	ALDH2_ENST00000416293.3_Silent_p.R51R|ALDH2_ENST00000261733.2_Silent_p.R51R																							CCGTCAGCAGGAAAACATTCC	0.483000													30	20					0	0	0.002445	0	0
BLM	641	broad.mit.edu	37	15	91298167	91298167	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:91298167C>T	ENST00000355112.3	+	5	1204	c.1087_splice	c.e5+1	p.D362_splice	BLM_ENST00000560509.1_Splice_Site_p.D362_splice	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	362					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGACTGTGACGGTACAAGCA	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				26	131					0	0	0.003954	0	0
HCCAT5	283902	broad.mit.edu	37	16	73127399	73127399	+	RNA	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:73127399G>A	ENST00000569990.2	+	0	805					NR_027756.1																						AGAAGAGATGGAGTCATAGCT	0.572000													4	9					0	0	0.009096	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524784	26524784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:26524784C>T	ENST00000456354.2	+	6	753	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTTTTTTCCGTGTTTGGA	0.493000													73	327					0	0	0.003610	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213788	42213788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:42213788G>A	ENST00000221992.6	+	2	368	c.254G>A	c.(253-255)gGa>gAa	p.G85E	CEA_ENST00000598976.1_Missense_Mutation_p.G85E|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G85E|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G85E	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	85	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TATGTAATAGGAACTCAACAA	0.468000													28	67					0	0	0.007835	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602101	234602101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:234602101C>T	ENST00000305139.6	+	1	590	c.451C>T	c.(451-453)Cca>Tca	p.P151S	UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTTCACAGACCCAGCCTTACC	0.512000													20	84					0	0	0.008871	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458415	45458415	+	RNA	SNP	A	A	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:45458415A>T	ENST00000548424.1	+	0	448																											CTCCTGGTCCAGTATGGCACA	0.522000													11	9					0	0	0.008291	0	0
SPRED2	200734	broad.mit.edu	37	2	65540880	65540880	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:65540880G>A	ENST00000356388.4	-	6	1201	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	SPRED2_ENST00000443619.2_Missense_Mutation_p.R335C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	338	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTCACCCGGCGGATGCAAGTT	0.622000													23	95					0	0	0.006320	0	0
GCSAML	148823	broad.mit.edu	37	1	247737636	247737636	+	Silent	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:247737636T>C	ENST00000366491.2	+	7	797	c.300T>C	c.(298-300)ccT>ccC	p.P100P	GCSAML_ENST00000463359.1_Silent_p.P88P|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.P100P|GCSAML_ENST00000366488.4_Silent_p.P120P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Silent_p.P100P|GCSAML_ENST00000527541.1_Silent_p.P88P|GCSAML_ENST00000527084.1_Silent_p.P88P					germinal center-associated, signaling and motility-like																		TTAGTAGGCCTTGTTCCTGCA	0.428000													12	31					0	0	0.001368	0	0
DNAH10	196385	broad.mit.edu	37	12	124411202	124411202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:124411202G>A	ENST00000409039.3	+	68	11611	c.11586G>A	c.(11584-11586)atG>atA	p.M3862I	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3862	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCCCCAATGATCAGCTTTG	0.517000													25	17					0	0	0.004656	0	0
SORL1	6653	broad.mit.edu	37	11	121485591	121485591	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:121485591A>G	ENST00000260197.7	+	41	5560	c.5431A>G	c.(5431-5433)Aca>Gca	p.T1811A	SORL1_ENST00000525532.1_Missense_Mutation_p.T755A|SORL1_ENST00000534286.1_Missense_Mutation_p.T721A|SORL1_ENST00000532694.1_Missense_Mutation_p.T657A|SORL1_ENST00000527934.1_Missense_Mutation_p.T426A	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1811	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGCAATCTGACAGCTCATAC	0.468000													27	73					0	0	0.007291	0	0
CENPC	1060	broad.mit.edu	37	4	68374707	68374707	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:68374707G>A	ENST00000273853.6	-	10	1979	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S		NM_001812.2	NP_001803.2			centromere protein C																		CTTTTAAGTGGAATAGTTTTT	0.338000													16	80					0	0	0.004007	0	0
MVP	9961	broad.mit.edu	37	16	29859194	29859194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:29859194C>T	ENST00000357402.5	+	15	2704	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	MVP_ENST00000395353.1_Nonsense_Mutation_p.Q856*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	856					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCCGAGGGTCAGCCCCTGGG	0.647000													15	106					0	0	0.002450	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													15	96					0	0	0.003163	0	0
LOC93432	93432	broad.mit.edu	37	7	141896582	141896582	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:141896582C>T	ENST00000477922.3	+	40	4652	c.4598C>T	c.(4597-4599)cCa>cTa	p.P1533L																	endometrium(1)|lung(5)	6						GCATTTTATCCATTTTCCAGA	0.458000													5	24					0	0	0.001168	0	0
GRIA2	2891	broad.mit.edu	37	4	158234028	158234028	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:158234028G>A	ENST00000296526.7	+	4	991		c.e4+1		GRIA2_ENST00000507898.1_Splice_Site|GRIA2_ENST00000449365.1_Splice_Site|GRIA2_ENST00000393815.2_Splice_Site|GRIA2_ENST00000264426.9_Splice_Site	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGTAGACCAGGTTTGCTACTT	0.378000													13	55					0	0	0.001855	0	0
VWA5A	4013	broad.mit.edu	37	11	123989325	123989325	+	Silent	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:123989325C>G	ENST00000456829.2	+	6	806	c.555C>G	c.(553-555)acC>acG	p.T185T	VWA5A_ENST00000361352.5_Silent_p.T185T|VWA5A_ENST00000360334.4_Silent_p.T185T|VWA5A_ENST00000449321.1_Silent_p.T185T|VWA5A_ENST00000392744.4_Silent_p.T201T|VWA5A_ENST00000392748.1_Silent_p.T185T	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	185										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGGTCGCCACCATAGATTCCC	0.502000													15	104					0	0	0.002450	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:55321940G>A	ENST00000314644.2	+	1	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)			41	114					0	0	0.002522	0	0
NUMA1	4926	broad.mit.edu	37	11	71730594	71730594	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:71730594C>G	ENST00000393695.3	-	9	861	c.530G>C	c.(529-531)aGg>aCg	p.R177T	NUMA1_ENST00000358965.6_Missense_Mutation_p.R177T|NUMA1_ENST00000351960.6_Missense_Mutation_p.R177T|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	177					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R177K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGAATCTCCCTCTTGGCCTG	0.522000			T	RARA	APL								23	184					0	0	0.002299	0	0
RBPJ	3516	broad.mit.edu	37	4	26432080	26432080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:26432080G>A	ENST00000342320.4	+	10	1257	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	RBPJ_ENST00000342295.1_Missense_Mutation_p.G375R|RBPJ_ENST00000507561.1_Missense_Mutation_p.G340R|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000345843.3_Missense_Mutation_p.G360R|RBPJ_ENST00000348160.4_Missense_Mutation_p.G362R|RBPJ_ENST00000361572.6_Missense_Mutation_p.G375R|RBPJ_ENST00000355476.3_Missense_Mutation_p.G361R			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	375	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGAACTTACAGGACAGAATTT	0.383000													34	27					0	0	0.004289	0	0
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:91450665G>A	ENST00000360468.3	+	7	1154	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H|MAN2A2_ENST00000431652.2_5'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567000													6	488					0	0	0.003080	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231258	94231258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:94231258C>T	ENST00000544612.1	+	3	777	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L94F	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	94					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGGAGACTCCTTTCTGAAAA	0.408000													39	43					0	0	0.007835	0	0
COG5	10466	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:106871105C>T	ENST00000393603.2	-	19	2487	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_ENST00000297135.3_Missense_Mutation_p.R739Q|COG5_ENST00000347053.3_Missense_Mutation_p.R718Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	718					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388000													22	131					0	0	0.002299	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275012	2275012	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:2275012G>A	ENST00000242257.8	-	3	514	c.486C>T	c.(484-486)ttC>ttT	p.F162F	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.F68F	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	162					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CGAGGTCCCGGAACCCTGTGG	0.572000													17	46					0	0	0.004007	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430786	25430786	+	RNA	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:25430786G>A	ENST00000424208.1	+	0	582				SNORD115-9_ENST00000362912.1_RNA	NR_003305.1																						TTGGGTCGATGATGAGAACCT	0.493000													91	152					0	0	0.003610	0	0
MFF	56947	broad.mit.edu	37	2	228195474	228195474	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:228195474G>A	ENST00000353339.3	+	4	612	c.171G>A	c.(169-171)ccG>ccA	p.P57P	MFF_ENST00000337110.7_Silent_p.P31P|MFF_ENST00000304593.9_Silent_p.P31P|MFF_ENST00000354503.6_Silent_p.P31P|MFF_ENST00000392059.1_Silent_p.P57P|MFF_ENST00000349901.7_Silent_p.P31P|MFF_ENST00000409565.1_Silent_p.P31P|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409616.1_Silent_p.P31P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	57						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAGTAGCACCGCCAAACGCTG	0.438000													13	63					0	0	0.001855	0	0
FHDC1	85462	broad.mit.edu	37	4	153895901	153895901	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:153895901C>T	ENST00000511601.1	+	12	1646	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	FHDC1_ENST00000260008.3_Silent_p.S486S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	486					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCAGCGCTCCTGGGCAACTG	0.632000													13	43					0	0	0.003163	0	0
ZNF212	7988	broad.mit.edu	37	7	148951021	148951021	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:148951021C>G	ENST00000335870.2	+	5	1131	c.1003C>G	c.(1003-1005)Ctg>Gtg	p.L335V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCCACACATCTGCGCAGCCA	0.577000													18	56					0	0	0.004990	0	0
AFM	173	broad.mit.edu	37	4	74363443	74363443	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:74363443G>T	ENST00000226355.3	+	10	1359	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	422	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAGAATTTGGGGAAGGATG	0.363000													9	13					6.40141e-05	7.01863e-05	0.000978	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020717	33020717	+	RNA	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:33020717C>T	ENST00000565407.2	+	0	125				RP11-19N8.2_ENST00000567619.1_RNA																							CTGTCCTGTCCAGCCTCTGGA	0.577000													105	118					0	0	0.003610	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458067	20458067	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:20458067C>A	ENST00000426804.1	-	1	3719	c.3235G>T	c.(3235-3237)Gac>Tac	p.D1079Y		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGAGTGTGTCGAAGGTGACG	0.657000													5	47					0.000602214	0.000656661	0.000602	1	0
FBXO40	51725	broad.mit.edu	37	3	121341342	121341342	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:121341342T>C	ENST00000338040.4	+	3	1480	c.1066T>C	c.(1066-1068)Tac>Cac	p.Y356H		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	356					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCCTGTGAGCTACTGTGGAAA	0.478000													38	41					0	0	0.004289	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506979	167506979	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:167506979C>T	ENST00000295777.5	+	2	494	c.63C>T	c.(61-63)ttC>ttT	p.F21F	SERPINI1_ENST00000446050.2_Silent_p.F21F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	21					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGGCCACTTTCCCTGAGGAAG	0.408000													31	32					0	0	0.002096	0	0
MRPS11	64963	broad.mit.edu	37	15	89015874	89015874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:89015874C>T	ENST00000325844.4	+	3	464	c.199C>T	c.(199-201)Cca>Tca	p.P67S	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	67					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCCTCCCATTCCAGGAGAGGA	0.373000													8	33					0	0	0.008291	0	0
NARS2	79731	broad.mit.edu	37	11	78282420	78282420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:78282420C>T	ENST00000281038.5	-	2	586	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	71					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGAAGGCTTTCCAAAGATGAC	0.403000													27	45					0	0	0.002445	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664492	38664492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:38664492G>A	ENST00000336949.6	+	2	1238	c.293G>A	c.(292-294)cGc>cAc	p.R98H	MID1IP1_ENST00000457894.1_Missense_Mutation_p.R98H|MID1IP1_ENST00000378474.3_Missense_Mutation_p.R98H	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	98					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						AAGTCCATCCGCAACGACATC	0.657000													15	81					0	0	0.004007	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581472	140581472	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140581472G>C	ENST00000354757.3	+	1	2125	c.2125G>C	c.(2125-2127)Gtg>Ctg	p.V709L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.V344L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		709					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.687000													20	156					0	0	0.002299	0	0
OR3A3	8392	broad.mit.edu	37	17	3324755	3324755	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:3324755C>T	ENST00000291231.1	+	1	894	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACCCACTTATCTACAGCCTCA	0.498000													33	70					0	0	0.003755	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510325	35510325	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:35510325G>A	ENST00000599564.1	+	14	1695	c.1624G>A	c.(1624-1626)Ggg>Agg	p.G542R	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.G455R|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.G221R|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.G448R			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	455						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGGCCGGCGGGTGTGTGGT	0.687000													18	70					0	0	0.007413	0	0
VWF	7450	broad.mit.edu	37	12	6232045	6232045	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:6232045C>T	ENST00000572068.1	-	3	392	c.12G>A	c.(10-12)caG>caA	p.Q4Q	VWF_ENST00000545906.1_5'UTR|VWF_ENST00000261405.5_Intron			P04275	VWF_HUMAN	von Willebrand factor	0					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTCCTCATCCTGTGCCCCCA	0.453000													55	27					0	0	0.003610	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100533320	100533320	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:100533320G>A	ENST00000268070.4	-	20	2987	c.2882C>T	c.(2881-2883)cCg>cTg	p.P961L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	961	TSP type-1 4.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCGGCTCTCGGCCTCGTGGA	0.597000													39	55					0	0	0.004878	0	0
DKK2	27123	broad.mit.edu	37	4	107845814	107845814	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:107845814G>A	ENST00000285311.3	-	3	1122	c.417C>T	c.(415-417)atC>atT	p.I139I	DKK2_ENST00000513208.1_Silent_p.I39I|DKK2_ENST00000510463.1_Silent_p.I93I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	139					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCAGAGCCGGGATGTGAGGGG	0.428000													21	78					0	0	0.002780	0	0
KCNK18	338567	broad.mit.edu	37	10	118969366	118969366	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:118969366G>A	ENST00000334549.1	+	3	711	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	237						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TAGAGAAACAGAACACACTGC	0.532000													34	34					0	0	0.002836	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237430	30237430	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:30237430T>A	ENST00000378988.4	+	2	834	c.733T>A	c.(733-735)Tgg>Agg	p.W245R		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	245	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGGGGAACCCTGGAAGCTCAT	0.498000													15	52					0	0	0.004007	0	0
EMP3	2014	broad.mit.edu	37	19	48833692	48833692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:48833692G>A	ENST00000270221.6	+	5	758	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	EMP3_ENST00000597279.1_Missense_Mutation_p.G153S|EMP3_ENST00000596315.1_Missense_Mutation_p.G84S	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	153					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTGGTCAGCGGCATCATCTA	0.697000													24	27					0	0	0.006320	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417545	14417545	+	RNA	SNP	T	T	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:14417545T>C	ENST00000507941.1	+	0	157																											GTGGAATTTTTACTGACAAAA	0.299000													3	8					0	0	0.004672	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747042	10747042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:10747042G>A	ENST00000586078.1	+	15	1386	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	SLC44A2_ENST00000407327.4_Missense_Mutation_p.R424H|SLC44A2_ENST00000335757.5_Missense_Mutation_p.R426H	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	426					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCCAATGCCCGTTGCCAGTTC	0.592000													33	52					0	0	0.003271	0	0
MAOA	4128	broad.mit.edu	37	X	43571120	43571120	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:43571120G>A	ENST00000338702.3	+	4	431	c.306_splice	c.e4-1	p.G103_splice	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	103					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	ATGTTCTAGGGGAAAACATAT	0.363000													17	112					0	0	0.004990	0	0
TTLL6	284076	broad.mit.edu	37	17	46867331	46867331	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:46867331C>T	ENST00000393382.3	-	10	1503	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	TTLL6_ENST00000433608.2_Silent_p.R147R	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	406						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAACTGCCCCCGTTGTCTCT	0.522000													22	37					0	0	0.001882	0	0
ZNF43	7594	broad.mit.edu	37	19	22000695	22000695	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:22000695G>A	ENST00000594012.1	-	6	720	c.206C>T	c.(205-207)cCc>cTc	p.P69L	ZNF43_ENST00000595461.1_Missense_Mutation_p.P69L|ZNF43_ENST00000354959.4_Missense_Mutation_p.P75L|ZNF43_ENST00000598288.1_Missense_Mutation_p.P69L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P69L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P75R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCTACCTGGGGGTTTGGCTAC	0.468000													32	102					0	0	0.003271	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593136	7593136	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:7593136C>T	ENST00000264079.6	+	7	995	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	290					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGTGTCTTCCAGCACGGTG	0.647000													17	22					0	0	0.004990	0	0
OR5B21	219968	broad.mit.edu	37	11	58274899	58274899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:58274899G>A	ENST00000360374.2	-	1	679	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCTTCAGCAGAATGCATCCT	0.453000													15	79					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:13864629C>T	ENST00000265104.4	-	28	4577	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1491	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome				8	36					0	0	0.003080	0	0
MTM1	4534	broad.mit.edu	37	X	149809808	149809808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:149809808C>T	ENST00000370396.2	+	8	649	c.595C>T	c.(595-597)Cct>Tct	p.P199S	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P84S|MTM1_ENST00000542741.1_Missense_Mutation_p.P104S|MTM1_ENST00000413012.2_Missense_Mutation_p.P162S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	199	Myotubularin phosphatase.		P -> S (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGACACTTACCCTGCTCTTTT	0.423000													21	61					0	0	0.001882	0	0
GMEB2	26205	broad.mit.edu	37	20	62221685	62221685	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:62221685G>A	ENST00000266068.1	-	9	1828	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	GMEB2_ENST00000370077.1_Silent_p.D450D|GMEB2_ENST00000370069.1_Silent_p.D399D			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	450					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGCTGGACGCGTCCGGGTGGA	0.697000													5	28					0	0	0.000602	0	0
HEPH	9843	broad.mit.edu	37	X	65408329	65408329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:65408329C>T	ENST00000519389.1	+	5	1095	c.916C>T	c.(916-918)Cct>Tct	p.P306S	HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.P255S|HEPH_ENST00000374727.3_Missense_Mutation_p.P255S|HEPH_ENST00000441993.2_Missense_Mutation_p.P255S|HEPH_ENST00000343002.2_Missense_Mutation_p.P252S			Q9BQS7	HEPH_HUMAN	hephaestin	252	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGCTCAGATCCTGCTTCAGT	0.473000													11	29					0	0	0.000978	0	0
ABL1	25	broad.mit.edu	37	9	133759737	133759737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:133759737G>A	ENST00000318560.5	+	11	2441	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	687					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCACCTGTGGAAGAAGTCC	0.692000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								13	10					0	0	0.002450	0	0
ZNF540	163255	broad.mit.edu	37	19	38103185	38103185	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:38103185C>T	ENST00000592533.1	+	5	1336	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	ZNF540_ENST00000589117.1_Missense_Mutation_p.A303V|ZNF540_ENST00000316433.4_Missense_Mutation_p.A335V|ZNF540_ENST00000343599.5_Missense_Mutation_p.A335V	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAAGCTTTTAGTGTA	0.348000													22	28					0	0	0.003330	0	0
PDXDC1	23042	broad.mit.edu	37	16	15125745	15125745	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:15125745C>G	ENST00000396410.4	+	17	1650	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C	PDXDC1_ENST00000569715.1_Missense_Mutation_p.S491C|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.S427C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S503C|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S536C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S490C	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	518					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCTAACTGGTCTGGAATAGGG	0.473000													4	10					0	0	0.009096	0	0
NRXN3	9369	broad.mit.edu	37	14	79933605	79933605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:79933605C>T	ENST00000281127.7	+	2	1168	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	NRXN3_ENST00000557594.1_Missense_Mutation_p.L97F|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.L729F|NRXN3_ENST00000335750.5_Missense_Mutation_p.L729F|NRXN3_ENST00000428277.2_Missense_Mutation_p.L97F	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	97	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGCTTATCCTCTACACCTG	0.562000													12	54					0	0	0.000978	0	0
KRT37	8688	broad.mit.edu	37	17	39578686	39578686	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:39578686C>T	ENST00000225550.3	-	4	732	c.732_splice	c.e4-1	p.E245_splice	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	245	Coil 1B.|Rod.					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)				ATCTTTACTTCCTGCAGAAAT	0.567000													51	91					0	0	0.003610	0	0
UBR5	51366	broad.mit.edu	37	8	103359151	103359151	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:103359151G>A	ENST00000520539.1	-	6	1162	c.556C>T	c.(556-558)Cca>Tca	p.P186S	UBR5_ENST00000220959.4_Missense_Mutation_p.P186S|UBR5_ENST00000521922.1_Missense_Mutation_p.P186S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	186					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTCCTCTGGAATGACAGAT	0.502000													47	40					0	0	0.003610	0	0
PADI4	23569	broad.mit.edu	37	1	17657557	17657557	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17657557C>T	ENST00000375448.4	+	2	212	c.186C>T	c.(184-186)tcC>tcT	p.S62S	PADI4_ENST00000375453.1_Silent_p.S62S|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	62					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGAAGAAATCCACAGGTTCCT	0.602000													27	29					0	0	0.008361	0	0
CCDC73	493860	broad.mit.edu	37	11	32636347	32636347	+	Missense_Mutation	SNP	G	G	A	rs79335956		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:32636347G>A	ENST00000335185.5	-	16	1560	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	506										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTGTTGTCCGTAACATTCGA	0.323000													8	133					0	0	0.003080	0	0
OTOP2	92736	broad.mit.edu	37	17	72920943	72920943	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:72920943G>A	ENST00000331427.4	+	2	308	c.216G>A	c.(214-216)ctG>ctA	p.L72L	OTOP2_ENST00000580223.1_Silent_p.L72L	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	72						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGATGCTGCTGGCAACGCTCT	0.662000													7	16					0	0	0.001984	0	0
HPSE	10855	broad.mit.edu	37	4	84231203	84231203	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:84231203C>T	ENST00000405413.2	-	7	1007	c.871G>A	c.(871-873)Gat>Aat	p.D291N	HPSE_ENST00000513463.1_Missense_Mutation_p.D233N|HPSE_ENST00000311412.5_Missense_Mutation_p.D291N|HPSE_ENST00000512196.1_Missense_Mutation_p.D291N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	291				D -> G (in Ref. 9; BAD96706).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	p.D291H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTAACTGAATCAATCACTTCT	0.308000													58	71					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132160351	132160351	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:132160351G>A	ENST00000511190.1	-	6	2367	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	USP26_ENST00000406273.1_Missense_Mutation_p.S633F|USP26_ENST00000370832.1_Missense_Mutation_p.S633F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	633					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTGGTTTAGAATTTTTTCC	0.398000													6	28					0	0	0.001168	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713657	30713657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:30713657C>T	ENST00000295754.5	+	4	1364	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H353Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	328	Protein kinase.		H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.H328Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCGCCTTCCACGCCAAGGG	0.587000													37	47					0	0	0.004289	0	0
KRT5	3852	broad.mit.edu	37	12	52913597	52913597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:52913597G>A	ENST00000252242.4	-	1	874	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	162	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCACCCTCTGGATGCTGGGG	0.532000													62	39					0	0	0.003610	0	0
TM9SF2	9375	broad.mit.edu	37	13	100207827	100207827	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:100207827C>T	ENST00000376387.4	+	15	1868	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	560					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCCTATTTCTGGTGTTTAT	0.333000													20	39					0	0	0.002780	0	0
PRDM14	63978	broad.mit.edu	37	8	70981781	70981781	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:70981781G>A	ENST00000276594.2	-	2	516	c.315C>T	c.(313-315)ccC>ccT	p.P105P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGGGGACGTGGGGAATTGGGT	0.637000													11	8					0	0	0.008291	0	0
C1orf172	126695	broad.mit.edu	37	1	27278858	27278858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27278858C>T	ENST00000320567.5	-	2	102	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	5	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGGGGTGTCCAGGGCGGGG	0.617000													39	55					0	0	0.006999	0	0
TRPV4	59341	broad.mit.edu	37	12	110246249	110246249	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:110246249G>A	ENST00000418703.2	-	2	505	c.411C>T	c.(409-411)gcC>gcT	p.A137A	TRPV4_ENST00000536838.1_Silent_p.A103A|TRPV4_ENST00000392719.2_Silent_p.A137A|TRPV4_ENST00000346520.2_Silent_p.A137A|TRPV4_ENST00000261740.2_Silent_p.A137A|TRPV4_ENST00000544971.1_Silent_p.A137A|TRPV4_ENST00000541794.1_Silent_p.A137A|TRPV4_ENST00000537083.1_Silent_p.A137A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	137					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGGGGCAGGGGCTTTGGGGC	0.657000													49	25					0	0	0.003610	0	0
PCP4	5121	broad.mit.edu	37	21	41300949	41300949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:41300949G>A	ENST00000328619.5	+	3	287	c.102G>A	c.(100-102)atG>atA	p.M34I	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	34					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ACATTGACATGGATGCACCAG	0.463000													20	48					0	0	0.008871	0	0
CHD2	1106	broad.mit.edu	37	15	93521462	93521462	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:93521462A>G	ENST00000394196.4	+	21	3645		c.e21-1		CHD2_ENST00000557381.1_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATTGTGTACAGGACTTCTGT	0.493000													31	43					0	0	0.002445	0	0
ZNF83	55769	broad.mit.edu	37	19	53116513	53116513	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53116513C>T	ENST00000597597.1	-	2	3558	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.G435G|ZNF83_ENST00000541777.2_Silent_p.G435G|ZNF83_ENST00000301096.3_Silent_p.G435G|ZNF83_ENST00000544146.1_Silent_p.G435G|ZNF83_ENST00000391789.4_Silent_p.G407G|ZNF83_ENST00000545872.1_Silent_p.G435G|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	435						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CGAAGACCTTCCCACATTCAT	0.368000													17	60					0	0	0.004007	0	0
CCDC129	223075	broad.mit.edu	37	7	31617677	31617677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:31617677C>T	ENST00000409210.1	+	6	707	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.R267W|CCDC129_ENST00000451887.2_Missense_Mutation_p.R293W			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	267										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAACATCAGGCGGGATTGTAA	0.473000													14	13					0	0	0.001855	0	0
ZNF630	57232	broad.mit.edu	37	X	47918858	47918858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:47918858C>T	ENST00000276054.4	-	5	1535	c.601G>A	c.(601-603)Gga>Aga	p.G201R	ZNF630_ENST00000442455.3_Missense_Mutation_p.G311R|ZNF630_ENST00000409324.3_Missense_Mutation_p.G325R|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AATGCTCTTCCATACTTAGTA	0.438000													15	43					0	0	0.004007	0	0
ZNF365	22891	broad.mit.edu	37	10	64136385	64136385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:64136385G>A	ENST00000395254.3	+	2	713	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	ZNF365_ENST00000395255.3_Missense_Mutation_p.G145S|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.G145S	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	204										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACACGGTCGGGTCCTGGACT	0.537000													30	21					0	0	0.008361	0	0
OR10J1	26476	broad.mit.edu	37	1	159410425	159410425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:159410425C>T	ENST00000423932.3	+	1	914	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	293					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGTCATCACTCCCCTACTGAA	0.507000													15	57					0	0	0.002450	0	0
MYH9	4627	broad.mit.edu	37	22	36689888	36689888	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:36689888C>T	ENST00000216181.5	-	29	4089	c.3859G>A	c.(3859-3861)Ggg>Agg	p.G1287R		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1287					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGAGAAGCCCGGTCACGTTG	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	21					0	0	0.001984	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691727	148691727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:148691727C>T	ENST00000296721.4	+	9	1078	c.980C>T	c.(979-981)cCc>cTc	p.P327L	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P327L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	327							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTCCCCAGATCCCCA	0.587000													16	94					0	0	0.006122	0	0
ASIC2	40	broad.mit.edu	37	17	31355372	31355372	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:31355372G>A	ENST00000225823.2	-	4	1898	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.S291S	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	291					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCATCTCTGAGGATCGGCACT	0.542000													24	40					0	0	0.003954	0	0
OR5M1	390168	broad.mit.edu	37	11	56380097	56380097	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:56380097G>C	ENST00000526538.1	-	1	881	c.882C>G	c.(880-882)aaC>aaG	p.N294K		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTACATCTGTGTTCCGTAGGC	0.403000													30	225					0	0	0.002836	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682274	3682274	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:3682274G>A	ENST00000344754.4	-	6	1242	c.1243C>T	c.(1243-1245)Cca>Tca	p.P415S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P415S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	415	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCAGGACTGGAGTGAGAGGC	0.617000													19	21					0	0	0.007413	0	0
SGTB	54557	broad.mit.edu	37	5	65008804	65008804	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:65008804G>A	ENST00000381007.4	-	3	423	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	63							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GAAGGAACTGGTAAACATTTC	0.348000													18	29					0	0	0.008871	0	0
OR5D13	390142	broad.mit.edu	37	11	55541346	55541346	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:55541346C>T	ENST00000361760.1	+	1	433	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTCTGTGCTCTTCTGGTGGC	0.418000													82	186					0	0	0.003610	0	0
OR8H1	219469	broad.mit.edu	37	11	56058493	56058493	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:56058493C>T	ENST00000313022.2	-	1	73	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCTGACAGTCCCGTAAGGATG	0.378000													36	77					0	0	0.003755	0	0
KCNK5	8645	broad.mit.edu	37	6	39159037	39159037	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:39159037C>G	ENST00000359534.3	-	5	1467	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	377					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCCGTGCCACAGCCTCCTCA	0.612000													12	40					0	0	0.001368	0	0
GAS2	2620	broad.mit.edu	37	11	22707235	22707235	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:22707235C>G	ENST00000454584.2	+	3	472	c.167C>G	c.(166-168)aCt>aGt	p.T56S	GAS2_ENST00000433790.1_Missense_Mutation_p.T56S|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.T56S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	56	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						ACAGCAGAAACTTTTATGGAG	0.363000													28	55					0	0	0.009535	0	0
VWA2	340706	broad.mit.edu	37	10	116049010	116049010	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:116049010C>T	ENST00000603594.1	+	12	2205	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	VWA2_ENST00000392982.3_Silent_p.A628A	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	628	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGAGGGGTGCCCGGCCTGGTG	0.642000													18	11					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179544088	179544088	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179544088C>T	ENST00000589042.1	-	142	33944	c.33720G>A	c.(33718-33720)aaG>aaA	p.K11240K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.K9996K|TTN_ENST00000591111.1_Silent_p.K10923K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10923	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCTTCTCCTTTTTAGGAA	0.398000													19	51					0	0	0.008871	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:106814062C>T	ENST00000407775.2	+	8	2002	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.F452F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.F452F|ZFPM2_ENST00000378472.4_Silent_p.F315F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	584					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCCAGAGTTCCCTAGTGTGT	0.443000													34	136					0	0	0.003755	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883398	12883398	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:12883398C>G	ENST00000379672.5	+	19	2087	c.1787C>G	c.(1786-1788)tCt>tGt	p.S596C	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S596C|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S590C	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAGGAACTTTCTCCAGGCTCT	0.582000													10	40					0	0	0.008291	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040720	147040720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:147040720C>T	ENST00000265272.5	-	3	885	c.418G>A	c.(418-420)Gag>Aag	p.E140K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E140K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E98K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	140						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGGGCCTCCTCCCGGGCC	0.557000													26	110					0	0	0.005443	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338578	28338578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:28338578G>A	ENST00000284987.5	-	1	254	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	45					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCTGCCGCCGGCGGGGCTGG	0.766000													7	11					0	0	0.001984	0	0
FGF7	2252	broad.mit.edu	37	15	49775436	49775436	+	Silent	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:49775436A>G	ENST00000267843.4	+	3	986	c.375A>G	c.(373-375)ggA>ggG	p.G125G	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	125					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACAAGGAAGGAAAACTCTATG	0.343000													5	18					0	0	0.001168	0	0
CCT3	7203	broad.mit.edu	37	1	156303399	156303399	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:156303399G>A	ENST00000295688.3	-	5	523	c.243C>T	c.(241-243)atC>atT	p.I81I	CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Silent_p.I43I|CCT3_ENST00000368261.3_Silent_p.I36I|CCT3_ENST00000472765.2_Silent_p.I36I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	81					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGCTAATTTCGATCATGGACT	0.423000													21	78					0	0	0.004656	0	0
NR5A2	2494	broad.mit.edu	37	1	200089940	200089940	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:200089940A>G	ENST00000367362.3	+	7	1481	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	NR5A2_ENST00000236914.3_Missense_Mutation_p.D366G|NR5A2_ENST00000544748.1_Missense_Mutation_p.D340G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	412					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTGCAGGTGGACTATTCCATA	0.413000													16	27					0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	137872745	137872745	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:137872745C>T	ENST00000409968.1	+	5	1429	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	THSD7B_ENST00000413152.2_Silent_p.L386L|THSD7B_ENST00000272643.3_Silent_p.L417L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCTCCTCCTCGAGCAGCAGG	0.512000													12	32					0	0	0.001855	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523327	70523327	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:70523327C>T	ENST00000538820.1	+	5	715	c.375C>T	c.(373-375)atC>atT	p.I125I	ITGB1BP2_ENST00000373829.3_Silent_p.I143I			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	143					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					ACAGTCTGATCCGGACTGGTT	0.502000													14	42					0	0	0.004990	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384138	62384138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:62384138G>A	ENST00000531383.1	-	4	955	c.749C>T	c.(748-750)cCt>cTt	p.P250L	B3GAT3_ENST00000534026.1_Missense_Mutation_p.P250L|B3GAT3_ENST00000265471.5_Missense_Mutation_p.P250L			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	250					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CATATCCACAGGGAAGGGCCT	0.642000													27	31					0	0	0.006320	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135218	23135218	+	RNA	SNP	G	G	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:23135218G>C	ENST00000390314.2	+	0	122																											ACTCAGCCTCGCTCAGTGTCC	0.567000													5	204					0	0	0.001168	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100908	85100908	+	Silent	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:85100908C>T	ENST00000566428.1	+	2	862	c.231C>T	c.(229-231)tcC>tcT	p.S77S	KIAA0513_ENST00000567328.1_Silent_p.S77S|KIAA0513_ENST00000538274.1_Silent_p.S77S|KIAA0513_ENST00000258180.3_Silent_p.S77S			O60268	K0513_HUMAN	KIAA0513	77						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCAACGAGTCCTTCTCCTCCA	0.592000													12	53					0	0	0.001368	0	0
PLG	5340	broad.mit.edu	37	6	161143576	161143576	+	Silent	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:161143576G>A	ENST00000308192.9	+	10	1296	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	411	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCACCAGAAGACCCCAGAAA	0.478000													24	17					0	0	0.004656	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457127	42457127	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:42457127G>A	ENST00000262407.5	-	18	1839	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	ITGA2B_ENST00000353281.4_Missense_Mutation_p.S603F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	603					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGCGGTAGGGACACATTGAG	0.612000													59	84					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9063802	9063802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:9063802C>T	ENST00000397910.4	-	3	23847	c.23644G>A	c.(23644-23646)Gac>Aac	p.D7882N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7884	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAGATGTCTGGTGATATT	0.507000													16	75					0	0	0.003163	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221451	1221451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:1221451G>A	ENST00000338555.2	+	4	1356	c.212G>A	c.(211-213)gGc>gAc	p.G71D	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G235D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G137D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G71D					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACCATCCACGGCGCCATCCGC	0.701000													6	7					0	0	0.001168	0	0
BROX	148362	broad.mit.edu	37	1	222902985	222902986	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:222902985_222902986delTT	ENST00000340934.5	+	10	1186_1187	c.780_781delTT	c.(778-783)actafs	p.TL260fs	BROX_ENST00000539697.1_Frame_Shift_Del_p.TL228fs|BROX_ENST00000537020.1_Frame_Shift_Del_p.TL260fs	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	260	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ATGGTGAGACTTTATTGGCTAG	0.351													149	236	---	---	---	---					
NCL	4691	broad.mit.edu	37	2	232325380	232325394	+	Splice_Site	DEL	CTTCCTCCTCCTCTT	CTTCCTCCTCCTCTT	-	rs147245704		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:232325380_232325394delCTTCCTCCTCCTCTT	ENST00000322723.4	-	4	1037_1051	c.811_splice	c.e4+1	p.EEEEEE266_splice		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	266	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATTTAAGTACCTTCCTCCTCCTCTTCTTCCTCCTC	0.419													12	89	---	---	---	---					
LINC00518	221718	broad.mit.edu	37	6	10430699	10430699	+	RNA	DEL	T	T	-	rs79230388		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:10430699delT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttt	0.453													2	4	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11871470	11871481	+	In_Frame_Del	DEL	GCAGCGGCAGCG	GCAGCGGCAGCG	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:11871470_11871481delGCAGCGGCAGCG	ENST00000423059.3	-	1	343_354	c.92_103delCGCTGCCGCTGC	c.(91-105)ctc>c	p.PLPLL31del		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	31						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		agcagcaggagcagcggcagcggcagcggcag	0.774										HNSCC(18;0.044)			4	7	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133041262	133041262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:133041262delT	ENST00000253861.4	+	6	971	c.942delT	c.(940-942)tcfs	p.S314fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.S314fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.S213fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	314					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGAAGAGGTCTACAACCCAGG	0.478													77	22	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	233	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)cca>c	p.PAPAANPS253del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	253	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													5	3	---	---	---	---