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
SSPO	23145	broad.mit.edu	37	7	149502620	149502620	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:149502620C>T	ENST00000378016.2	+	0	8433							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGATTCATCCTGCCCAGGAG	0.682000													8	53					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065994	9065994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9065994G>A	ENST00000397910.4	-	3	21655	c.21452C>T	c.(21451-21453)tCa>tTa	p.S7151L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7153	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						CTTTGGAGGTGAACTGGTTAC	0.507000													19	62					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138679654	138679654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:138679654C>T	ENST00000520602.1	-	21	2485	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	MCF2_ENST00000536274.1_Missense_Mutation_p.D635N|MCF2_ENST00000414978.1_Missense_Mutation_p.D734N|MCF2_ENST00000370578.4_Missense_Mutation_p.D819N|MCF2_ENST00000370573.4_Missense_Mutation_p.D674N|MCF2_ENST00000370576.4_Missense_Mutation_p.D674N|MCF2_ENST00000338585.6_Missense_Mutation_p.D690N|MCF2_ENST00000519895.1_Missense_Mutation_p.D750N			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	674	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGCATAGAATCATTAACTGAC	0.373000													13	20					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265336	52265336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:52265336C>T	ENST00000321600.1	+	3	639	c.593C>T	c.(592-594)tCc>tTc	p.S198F	DYNAP_ENST00000585973.1_Missense_Mutation_p.S146F	NM_173629.1	NP_775900.1			dynactin associated protein																		GCCACCACTTCCACAGAACCT	0.453000													17	70					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656469	46656469	+	Missense_Mutation	SNP	G	G	A	rs138724795	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46656469G>A	ENST00000544460.1	+	1	858	c.604G>A	c.(604-606)Gac>Aac	p.D202N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D202N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	202					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCGGGTGCCCGACAGCCTCTT	0.662000													25	80					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152642893	152642893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:152642893G>A	ENST00000367255.5	-	83	16647	c.16046C>T	c.(16045-16047)cCa>cTa	p.P5349L	SYNE1_ENST00000265368.4_Missense_Mutation_p.P5349L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5278L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5278L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5022L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5349					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTATTGTTGGATTCCCTAA	0.378000										HNSCC(10;0.0054)			19	32					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193515	62193515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62193515G>A	ENST00000467148.1	-	10	6508	c.6439C>T	c.(6439-6441)Ccc>Tcc	p.P2147S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1578S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGGCCTCCGGGGATGTTGTAG	0.662000													7	9					0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479047	55479047	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:55479047C>T	ENST00000342972.1	+	1	510	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	80	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CTTCAGTGCCCCGGAGCAATT	0.562000													16	7					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821101	73821101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:73821101G>A	ENST00000342056.2	+	7	1498	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	KCNQ5_ENST00000402622.2_Missense_Mutation_p.R367K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R367K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R367K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R367K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R367K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R367K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R367K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	367					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAGAAAAGAAGGAACCCAGCT	0.408000													18	49					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106386	147106386	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:147106386G>A	ENST00000370467.3	+	5	708	c.632_splice	c.e5-1	p.E212_splice		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	212						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTACAGCGAACCGGCCGA	0.368000													28	22					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841871	5841871	+	Silent	SNP	G	G	A	rs139425458		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5841871G>A	ENST00000317037.2	+	1	328	c.306G>A	c.(304-306)caG>caA	p.Q102Q	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGGCCCAGATGTTTTTTG	0.517000													26	53					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804987	44804987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:44804987C>T	ENST00000309315.4	+	16	2174	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P684L|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P658L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P626L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P652L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	684					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGCCAGTGCCCGTGAAGCCT	0.642000													10	36					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	7					1.23904e-05	1.25587e-05	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40135956	40135956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:40135956C>T	ENST00000278198.2	-	2	3850	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M629I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M629I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M629I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	629					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTTAGAGTTCATTCGGATCA	0.303000													4	35					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148613	34148613	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:34148613C>T	ENST00000346193.3	-	1	1834	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	595										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCAGAAACGCACTCTTTT	0.453000													17	11					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907804	180907804	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:180907804C>T	ENST00000367588.4	+	6	2930	c.2875C>T	c.(2875-2877)Ctg>Ttg	p.L959L	KIAA1614_ENST00000367587.1_Silent_p.L580L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	959	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGAGGGAAGCCTGCAGAGGAC	0.567000													4	39					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160526076	160526076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:160526076C>T	ENST00000356956.1	+	48	7584	c.7436C>T	c.(7435-7437)tCc>tTc	p.S2479F	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2479					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCTGGTGTCCTTCCATGAC	0.607000													5	20					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390374	158390374	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158390374G>A	ENST00000314902.2	-	1	282	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCACAGCCCAGGAAAGAAATG	0.478000													41	65					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946505	144946505	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:144946505G>A	ENST00000525985.1	-	2	988	c.917C>T	c.(916-918)aCc>aTc	p.T306I				P58107	EPIPL_HUMAN	epiplakin 1	306						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)			CAGGTGCTCGGTGGCAGCCTG	0.682000													16	79					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432260	228432260	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:228432260C>T	ENST00000570156.2	+	12	3819	c.3745C>T	c.(3745-3747)Ctg>Ttg	p.L1249L	OBSCN_ENST00000422127.1_Silent_p.L1157L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1157L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	199	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCTTCCACCTGCACATCAC	0.532000													23	87					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95710055	95710055	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:95710055A>G	ENST00000429514.2	+	3	535	c.329A>G	c.(328-330)gAa>gGa	p.E110G	RWDD3_ENST00000370202.4_Missense_Mutation_p.E125G|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.E125G|RP11-57H12.5_ENST00000444665.1_RNA			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	125	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTGGCAGTGAAAAGTGTACT	0.428000													8	65					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95206159	95206159	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:95206159C>T	ENST00000354268.4	+	23	3031	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	SMARCAD1_ENST00000509418.1_Silent_p.S556S|SMARCAD1_ENST00000457823.2_Silent_p.S988S			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	986	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGAAGAATCCATGCTAAAAA	0.289000													4	29					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564906	58564906	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:58564906C>T	ENST00000282326.1	+	6	961	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCTCGAGCCCCAAGGGTCCAA	0.612000													11	43					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262099	15262099	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:15262099G>A	ENST00000256953.2	-	5	881	c.545C>T	c.(544-546)tCc>tTc	p.S182F	RERG_ENST00000538313.1_Missense_Mutation_p.S182F|RERG_ENST00000536465.1_Missense_Mutation_p.S182F|RERG_ENST00000546331.1_Missense_Mutation_p.S163F	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	182					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGCGTGGTGGAGCTGCGTCG	0.532000													25	106					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43904693	43904693	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:43904693C>T	ENST00000562955.1	+	47	6550	c.6550C>T	c.(6550-6552)Cta>Tta	p.L2184L	SZT2_ENST00000372442.1_Silent_p.L1342L|SZT2_ENST00000471177.1_3'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2241						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCATGGTACCTACGGCAGAA	0.577000													26	63					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892470	11892470	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:11892470G>A	ENST00000357901.4	+	4	1933	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R	ZNF441_ENST00000454339.2_Missense_Mutation_p.G544R	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCACACTGGAGAGAAACC	0.393000													13	29					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17537831	17537831	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:17537831C>T	ENST00000005226.7	-	15	1216	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATAAAACCATCCAAAAGCTAT	0.498000													6	5					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699436	50699436	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:50699436C>T	ENST00000404971.1	-	17	4703	c.3364_splice	c.e17+1	p.G1122_splice	NRXN1_ENST00000401669.2_Splice_Site_p.G1082_splice|NRXN1_ENST00000406859.3_Splice_Site_p.G1082_splice|NRXN1_ENST00000402717.3_Splice_Site_p.G1074_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G1082_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Splice_Site_p.G1074_splice|NRXN1_ENST00000401710.1_Splice_Site_p.V91_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1082					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCTAATACCTTCACATCCT	0.423000													3	10					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030924	197030924	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:197030924C>T	ENST00000367412.1	-	3	484	c.441G>A	c.(439-441)agG>agA	p.R147R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	147	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATGTTCTTTCCTACAGGTTG	0.358000													17	28					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086161	175086161	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:175086161G>A	ENST00000239462.4	+	10	2319	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	736	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCACCATTGACAGGTATGT	0.587000													27	63					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996371	19996371	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:19996371T>C	ENST00000391403.2	-	1	1507	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	468						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAGGATCTTTTTCTAAAAGTT	0.378000													17	45					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212989568	212989568	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:212989568G>T	ENST00000342788.4	-	2	453	c.143C>A	c.(142-144)gCc>gAc	p.A48D	ERBB4_ENST00000436443.1_Missense_Mutation_p.A48D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A48D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	48					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTGCGCAAGGCTCGGTACTG	0.488000										TSP Lung(8;0.080)			5	29					0.217242	0.217242	1	1	0
PAQR9	344838	broad.mit.edu	37	3	142681053	142681053	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:142681053T>C	ENST00000340634.3	-	1	1125	c.1126A>G	c.(1126-1128)Aaa>Gaa	p.K376E		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	376						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCTCACTTTTTACTGCAGAAT	0.488000													19	110					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10711033	10711033	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:10711033C>T	ENST00000377022.3	-	12	3098	c.2781G>A	c.(2779-2781)caG>caA	p.Q927Q	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Q927Q	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GACTGCGGTCCTGGGAGGCTT	0.706000													5	19					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572000													8	37					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586194	50586194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:50586194G>A	ENST00000378182.3	+	2	856	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	TRIM13_ENST00000356017.4_Missense_Mutation_p.G43R|TRIM13_ENST00000457662.2_Missense_Mutation_p.G40R|TRIM13_ENST00000420995.2_Missense_Mutation_p.G40R|TRIM13_ENST00000298772.5_Missense_Mutation_p.G43R|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	40					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TATCTTAGAAGGGAGTGTGCG	0.438000													16	42					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376911	18376911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:18376911G>A	ENST00000392413.3	-	3	1654	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	KIAA1683_ENST00000600328.2_Missense_Mutation_p.S480L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.S434L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	480						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCTGGGATGAAGTCTTGGA	0.612000													20	59					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702080	181702080	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:181702080C>T	ENST00000526775.1	+	19	2966	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	CACNA1E_ENST00000367570.1_Missense_Mutation_p.P953L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P560L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P953L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P885L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P904L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P934L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	953					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGCCATGCCCACTGAAGGG	0.602000													24	81					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152382559	152382559	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:152382559C>T	ENST00000397345.3	-	150	22276	c.22074G>A	c.(22072-22074)aaG>aaA	p.K7358K	NEB_ENST00000172853.10_Silent_p.K5657K|NEB_ENST00000604864.1_Silent_p.K7358K|NEB_ENST00000603639.1_Silent_p.K7358K|NEB_ENST00000409198.1_Silent_p.K5657K|NEB_ENST00000427231.2_Silent_p.K7358K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5657					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAAGTGCTTCTTGACATGGT	0.517000													34	144					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445280	10445280	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:10445280G>A	ENST00000326756.3	-	3	3111	c.2673C>T	c.(2671-2673)acC>acT	p.T891T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTACTTGTTTGGTTTTATTTC	0.388000													11	39					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753582	45753582	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:45753582G>A	ENST00000297323.7	+	20	3370	c.3348G>A	c.(3346-3348)ggG>ggA	p.G1116G		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1116					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAGCAGCTGGGAAGGAGGCTT	0.692000													12	32					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618866	7618866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:7618866C>T	ENST00000299492.4	+	5	836	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.Q38*|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	150					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAGGACACCAGGTGAAACT	0.522000													3	8					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041171	56041171	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:56041171C>T	ENST00000413299.1	-	4	1013	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	SBK2_ENST00000344158.3_Missense_Mutation_p.G326R	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	326	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGGGGCGCCCCAGGTGCTCC	0.731000													11	36					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7505163	7505163	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:7505163C>T	ENST00000359920.6	+	1	590	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	113					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCGGGGCTTCCGCGCCGGGGA	0.632000													4	2					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633044	32633044	+	Missense_Mutation	SNP	C	C	T	rs34787787		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:32633044C>T	ENST00000242310.4	-	1	2623	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	845			R -> Q (in dbSNP:rs34787787).		male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R845Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCTTCCATTCGTATCCTCCG	0.458000													26	58					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952732	50952732	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:50952732G>A	ENST00000374103.4	-	13	1781	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	OGDHL_ENST00000432695.1_Silent_p.L357L|OGDHL_ENST00000419399.1_Silent_p.L509L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	566					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTATATGCAGAATCTTTTTA	0.532000													15	19					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155067	100155067	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:100155067C>T	ENST00000263174.4	+	7	1626	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	PALMD_ENST00000605497.1_Silent_p.F417F	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	417					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CAATGATTTTCATGGGGTATC	0.443000													15	25					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250392	1250392	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:1250392C>T	ENST00000348261.5	+	7	1188	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P314S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P314S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCTGCGCATGCCCTGCACCCT	0.672000													6	14					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:10921986C>T	ENST00000298232.7	-	17	1350	c.983G>A	c.(982-984)gGa>gAa	p.G328E	TPTE_ENST00000342420.5_Missense_Mutation_p.G308E|TPTE_ENST00000361285.4_Missense_Mutation_p.G346E|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AACCATAGTTCCTGTTCTATC	0.328000													16	59					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150080542	150080542	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:150080542C>T	ENST00000199814.4	-	1	127	c.6G>A	c.(4-6)gcG>gcA	p.A2A	RBM22_ENST00000540000.1_Silent_p.A2A|RBM22_ENST00000447771.2_Silent_p.A2A	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	2					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGAGGTCGCCATCTTGA	0.642000											OREG0016939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	50					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84234394	84234394	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:84234394C>T	ENST00000405413.2	-	5	682	c.546G>A	c.(544-546)ctG>ctA	p.L182L	HPSE_ENST00000512196.1_Silent_p.L182L|HPSE_ENST00000311412.5_Silent_p.L182L|HPSE_ENST00000513463.1_Intron	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	182					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			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)	AGATCAAGTCCAGTCCTGAGC	0.428000													6	36					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926251	67926251	+	Missense_Mutation	SNP	G	G	A	rs140037372		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67926251G>A	ENST00000304363.4	-	11	1915	c.1562C>T	c.(1561-1563)cCt>cTt	p.P521L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCTCTCACAGGATTCTGTCT	0.557000													12	71					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092156	159092156	+	Silent	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:159092156G>C	ENST00000296530.8	-	2	993	c.372C>G	c.(370-372)acC>acG	p.T124T	FAM198B_ENST00000592057.1_Silent_p.T124T|FAM198B_ENST00000585682.1_Silent_p.T124T|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Silent_p.T124T|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	124						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGGCTTCACGGTGCCACGGA	0.627000													15	55					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003879	71003879	+	Silent	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:71003879A>T	ENST00000357250.6	-	5	845	c.687T>A	c.(685-687)gtT>gtA	p.V229V	COL9A1_ENST00000370496.3_Silent_p.V229V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	229	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACAGAAACTTGAGGAT	0.383000													23	92					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870205	35870205	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:35870205T>C	ENST00000377981.2	-	1	256	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAGAGAGGTTGCCCAGGAA	0.582000													8	14					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870342	47870342	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47870342C>T	ENST00000328771.4	+	7	2047	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	566						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACCAGGGGGCCCTGGACAGCT	0.642000													8	27					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488500	157488500	+	Silent	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:157488500C>A	ENST00000361835.3	-	14	2890	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.V911V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	911						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATTAGTGTACACTGGTTGCA	0.567000													11	31					4.36969e-10	4.46764e-10	1	1	0
PKDREJ	10343	broad.mit.edu	37	22	46657456	46657456	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:46657456C>T	ENST00000253255.5	-	1	1763	c.1764G>A	c.(1762-1764)agG>agA	p.R588R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	588	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGTGCTTATCCCTAAAATTAC	0.368000													20	16					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85672726	85672726	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:85672726G>A	ENST00000322366.6	-	36	6290	c.5883C>T	c.(5881-5883)ttC>ttT	p.F1961F	WDFY3_ENST00000295888.4_Silent_p.F1961F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1961						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCAAAAACGAACTTTTTAG	0.443000													24	62					0	0	1	0	0
TAC4	255061	broad.mit.edu	37	17	47921434	47921434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:47921434C>T	ENST00000334568.4	-	2	208	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	TAC4_ENST00000436235.1_Missense_Mutation_p.R64Q|TAC4_ENST00000326219.5_Missense_Mutation_p.R64Q|TAC4_ENST00000398154.1_Missense_Mutation_p.R64Q|TAC4_ENST00000352793.2_Missense_Mutation_p.R64Q	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN	tachykinin 4 (hemokinin)	70					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						ACCTCCCACTCGCTTCCCCAT	0.562000													27	161					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54348980	54348980	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:54348980G>A	ENST00000243103.3	+	1	363	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	89					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CGCGCGTGGAGGACGGCAAGG	0.751000													5	14					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961817	209961817	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:209961817G>A	ENST00000367021.3	-	9	1524	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	IRF6_ENST00000542854.1_Missense_Mutation_p.P356L	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	451					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGCTGCATGGGCTGCCAGCT	0.517000										HNSCC(57;0.16)			24	52					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883878	63883878	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63883878G>A	ENST00000246841.3	+	2	1182	c.139G>A	c.(139-141)Gag>Aag	p.E47K	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	19	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTTCCTGACGGAGGTCATCGA	0.637000													10	21					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968652	138968652	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:138968652T>A	ENST00000288561.8	+	15	3001	c.2752T>A	c.(2752-2754)Tct>Act	p.S918T	UBN2_ENST00000473989.2_Missense_Mutation_p.S1001T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1001	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCCCTGGTTTCTAGGACAGT	0.498000													19	37					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195320	19195320	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19195320G>A	ENST00000562034.1	+	3	4417	c.619G>A	c.(619-621)Gag>Aag	p.E207K	SYT17_ENST00000355377.2_Missense_Mutation_p.E268K|SYT17_ENST00000568115.1_Missense_Mutation_p.E207K|SYT17_ENST00000562711.2_Missense_Mutation_p.E264K			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	268	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCCCTTCCTGGAGGCCCAGAG	0.547000													41	106					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114476878	114476878	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:114476878G>C	ENST00000394779.3	-	13	2197	c.1953C>G	c.(1951-1953)atC>atG	p.I651M	C9orf84_ENST00000374287.3_Missense_Mutation_p.I690M|C9orf84_ENST00000318737.4_Missense_Mutation_p.I690M|C9orf84_ENST00000394777.4_Missense_Mutation_p.I616M	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	690										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGTTGTAGATATCTTTTG	0.348000													12	13					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169143026	169143026	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:169143026G>A	ENST00000393743.3	-	36	5122	c.4831C>T	c.(4831-4833)Cta>Tta	p.L1611L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1611							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATTGTGCCTAGAGTAACCTGA	0.363000													3	22					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421922	124421922	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:124421922C>T	ENST00000545135.1	-	3	3924	c.628G>A	c.(628-630)Gag>Aag	p.E210K	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.E227K|CCDC92_ENST00000545891.1_Missense_Mutation_p.E210K			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	227										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCCTGCTCTCTGCCCCGAAT	0.582000													7	61					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831043	61831043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:61831043G>A	ENST00000280772.1	-	37	9787	c.9596C>T	c.(9595-9597)cCa>cTa	p.P3199L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCGGGAATTGGGCTGGGTTT	0.483000													13	40					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394142	154394142	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:154394142C>T	ENST00000435029.4	+	1	883	c.723C>T	c.(721-723)ctC>ctT	p.L241L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	241	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGTAGATCTCGCTGGATCAG	0.433000													24	54					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954061	218954061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:218954061G>A	ENST00000374155.3	+	11	2059	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.R530Q			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	530							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTTTGGCCGATTTTCTCGG	0.602000													3	20					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239448	21239448	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:21239448T>C	ENST00000233242.1	-	21	3322	c.3195A>G	c.(3193-3195)caA>caG	p.Q1065Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1065					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATCCGGAATTTGGACTTCAC	0.438000													8	43					0	0	1	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718720	1718720	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:1718720C>T	ENST00000382160.1	+	1	296	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	82	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGCTCTTGTGGCTGC	0.637000													58	142					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24300518	24300518	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:24300518G>T	ENST00000313482.4	-	5	792	c.733C>A	c.(733-735)Cca>Aca	p.P245T	TP53I3_ENST00000335934.4_Silent_p.I310I|TP53I3_ENST00000238721.4_Silent_p.I310I|TP53I3_ENST00000407482.1_Missense_Mutation_p.P245T|FAM228B_ENST00000461972.1_Intron			Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	0					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCTCCTGGATTTCGGTCA	0.572000													10	45					4.68919e-08	4.78239e-08	1	1	0
INHBB	3625	broad.mit.edu	37	2	121106693	121106693	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:121106693G>A	ENST00000295228.3	+	2	513	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	156					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R156Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCCTCCTCCCGGGTCCGCCTA	0.557000													5	71					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842327	14842327	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:14842327C>T	ENST00000380881.4	-	10	2543	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	FREM1_ENST00000422223.2_Silent_p.G575G|FREM1_ENST00000380880.3_Silent_p.G575G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	575					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGTCCTGGCCCTGGCTTCT	0.463000													16	52					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940532	22940532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:22940532G>A	ENST00000397104.3	-	5	1905	c.1906C>T	c.(1906-1908)Cat>Tat	p.H636Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H727Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.358000													7	25					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487924	63487924	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63487924C>T	ENST00000377819.5	+	3	2104	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S	RTN3_ENST00000339997.4_Silent_p.S631S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.S538S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	650					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATGATTCCTCCCCAGAGGACC	0.348000													8	26					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649405	34649405	+	Missense_Mutation	SNP	A	A	G	rs144668484		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:34649405A>G	ENST00000537011.1	+	8	3578	c.3196A>G	c.(3196-3198)Agt>Ggt	p.S1066G	NUTM1_ENST00000438749.3_Missense_Mutation_p.S1056G|NUTM1_ENST00000333756.4_Missense_Mutation_p.S1038G					NUT midline carcinoma, family member 1																		GCATCCCCTCAGTCCTCACCA	0.532000													10	35					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056015	58056015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:58056015C>T	ENST00000556826.1	-	3	742	c.506G>A	c.(505-507)tGg>tAg	p.W169*	SLC35F4_ENST00000339762.6_Nonsense_Mutation_p.W205*|SLC35F4_ENST00000554729.1_Nonsense_Mutation_p.W46*	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATAATGTTCCAGTTTGTTGA	0.343000													11	35					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870341	47870341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47870341C>T	ENST00000328771.4	+	7	2046	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	566						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCAGGGGGCCCTGGACAGC	0.642000													8	28					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463050	5463050	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:5463050C>T	ENST00000345221.3	-	4	1520	c.966G>A	c.(964-966)ctG>ctA	p.L322L	NLRP1_ENST00000269280.4_Silent_p.L322L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.L322L|NLRP1_ENST00000572272.1_Silent_p.L322L|NLRP1_ENST00000262467.5_Silent_p.L322L|NLRP1_ENST00000354411.3_Silent_p.L322L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	322					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTGGGTATCCAGGCCTGGGC	0.542000													57	171					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6264003	6264003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:6264003C>T	ENST00000400104.3	-	5	362	c.162G>A	c.(160-162)tgG>tgA	p.W54*	L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W54*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W54*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W54*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	54					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGTACCACTCCCAAGACCATG	0.433000													3	49					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454589	3454589	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:3454589C>G	ENST00000268655.4	+	2	1151	c.566C>G	c.(565-567)cCc>cGc	p.P189R	ZNF174_ENST00000575752.1_Missense_Mutation_p.P189R|ZNF174_ENST00000344823.5_Missense_Mutation_p.P189R|ZNF174_ENST00000571936.1_Missense_Mutation_p.P189R|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Missense_Mutation_p.P189R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	189					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CGGCTGAGCCCCCATCATTGG	0.552000													22	90					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908354	103908354	+	Missense_Mutation	SNP	G	G	A	rs115891405	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:103908354G>A	ENST00000302259.3	+	1	1047	c.804G>A	c.(802-804)atG>atA	p.M268I	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	268					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACCATTATGAGCCAGGCTT	0.527000													17	83					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958248	61958248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:61958248C>T	ENST00000332800.7	-	4	473	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GH2_ENST00000449787.2_Missense_Mutation_p.E99K|GH2_ENST00000456543.2_Missense_Mutation_p.E114K|GH2_ENST00000423893.2_Missense_Mutation_p.E114K	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	114						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCACGGGCTCCAGCCATGAC	0.632000													10	60					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21328004	21328004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:21328004C>T	ENST00000313654.9	+	3	786	c.545C>T	c.(544-546)tCa>tTa	p.S182L	LAMA3_ENST00000399516.3_Missense_Mutation_p.S182L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	182	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCACCTACTCACCATGGCAA	0.373000													8	43					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000													16	41					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612120	189612120	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:189612120T>C	ENST00000264731.3	+	14	1961	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	TP63_ENST00000382063.4_Silent_p.S539S|TP63_ENST00000456148.1_Silent_p.S526S|TP63_ENST00000354600.5_Silent_p.S530S|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000449992.1_Silent_p.S445S|TP63_ENST00000440651.2_Silent_p.S620S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	624	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGTGCCTCTACAGTCAGTG	0.582000										HNSCC(45;0.13)			11	67					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268883	44268883	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:44268883C>T	ENST00000315087.7	-	4	972		c.e4-1		ST8SIA5_ENST00000538168.1_Splice_Site|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Splice_Site	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5						glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGAGTAGACCTGCCAGGCAG	0.582000													5	29					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904856	101904856	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:101904856T>G	ENST00000374994.4	+	5	961	c.844T>G	c.(844-846)Tat>Gat	p.Y282D	TGFBR1_ENST00000550253.1_Missense_Mutation_p.Y213D|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Y205D|TGFBR1_ENST00000552516.1_Missense_Mutation_p.Y286D	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	282	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTGTCAGATTATCATGAGCA	0.413000													12	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179538385	179538385	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179538385T>C	ENST00000589042.1	-	152	34985	c.34761A>G	c.(34759-34761)aaA>aaG	p.K11587K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K11213K|TTN_ENST00000342992.6_Silent_p.K10286K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11401	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K10286N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCACTTTTTTAGGAACAG	0.328000													6	22					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700682	55700682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:55700682G>A	ENST00000373965.2	-	25	3591	c.3197C>T	c.(3196-3198)tCt>tTt	p.S1066F	PCDH15_ENST00000395445.1_Missense_Mutation_p.S1066F|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1059F|PCDH15_ENST00000409834.1_Missense_Mutation_p.S670F|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1037F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S988F|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1022F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1064F|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1059F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1059	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGCAGCAGAAATTACACC	0.368000										HNSCC(58;0.16)			3	16					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499677	18499677	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18499677C>T	ENST00000433979.1	+	11	1648	c.1532C>T	c.(1531-1533)cCt>cTt	p.P511L	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P511L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P511L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P511L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	511					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTAAATGTACCTAGATGCACT	0.443000													7	50					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094702	79094702	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:79094702C>T	ENST00000326724.4	-	11	3058	c.3034G>A	c.(3034-3036)Gag>Aag	p.E1012K	AATK_ENST00000417379.1_Missense_Mutation_p.E909K	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1012						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CACTTCTTCTCTGGGCCTGAG	0.667000													4	5					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080774	57080774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:57080774G>A	ENST00000316981.3	-	4	534	c.55C>T	c.(55-57)Cct>Tct	p.P19S	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	19	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCCCTGAAGGGACTTTCTGG	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								13	34					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427054	65427054	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:65427054T>C	ENST00000519389.1	+	14	2650	c.2471T>C	c.(2470-2472)cTg>cCg	p.L824P	HEPH_ENST00000343002.2_Missense_Mutation_p.L770P|HEPH_ENST00000336279.5_Missense_Mutation_p.L503P|HEPH_ENST00000374727.3_Missense_Mutation_p.L773P|HEPH_ENST00000441993.2_Missense_Mutation_p.L773P|HEPH_ENST00000419594.1_Missense_Mutation_p.L581P			Q9BQS7	HEPH_HUMAN	hephaestin	770	Plastocyanin-like 5.				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						TACATTTTCCTGAGCAACAAG	0.458000													11	5					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45388239	45388239	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:45388239G>A	ENST00000389039.6	-	30	4252	c.3867C>T	c.(3865-3867)ttC>ttT	p.F1289F	DUOX2_ENST00000603300.1_Silent_p.F1289F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1289	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGGCCTCTGGAATTGCAGGT	0.582000													10	34					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911634	107911634	+	Silent	SNP	C	C	T	rs104886391		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:107911634C>T	ENST00000328300.6	+	41	3934	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	COL4A5_ENST00000361603.2_Silent_p.F1230F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1230	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						TTCACGGTTTCCCTGGTGTGC	0.587000									Alport syndrome with Diffuse Leiomyomatosis				9	10					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510647	48510647	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:48510647C>T	ENST00000446524.1	+	1	379	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCTCTTTATCGAGCACATTT	0.428000													19	66					0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537091	129537091	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:129537091G>A	ENST00000388920.4	+	2	858	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	273					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TTTCTTTCGGGAGGCGGCCAC	0.706000													4	9					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	48					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169368	138169368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:138169368G>A	ENST00000409968.1	+	14	3063	c.2885G>A	c.(2884-2886)gGc>gAc	p.G962D	THSD7B_ENST00000272643.3_Missense_Mutation_p.G962D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G931D|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)		TGTGGAGAAGGCCTGCGCTTT	0.512000													19	40					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9711175	9711175	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:9711175C>T	ENST00000296003.4	+	5	675	c.554_splice	c.e5+1	p.R185_splice	MTMR14_ENST00000351233.5_Splice_Site_p.R185_splice|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Splice_Site_p.R185_splice	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	185						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CTGTGCTCTTCGGTCAGTGCT	0.572000													8	31					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995572	63995572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:63995572G>A	ENST00000370658.5	-	3	283	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	LGSN_ENST00000370657.4_Missense_Mutation_p.R84C	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	84					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AACTGGAGGCGATTTTTGGCC	0.433000													11	33					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11513721	11513721	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:11513721C>T	ENST00000262442.3	+	3	691	c.623C>T	c.(622-624)tCt>tTt	p.S208F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S208F|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.S208F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	208	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCTTGGATTCTATAGATAAG	0.433000													11	26					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198508932	198508932	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:198508932G>A	ENST00000295049.3	-	3	924	c.388C>T	c.(388-390)Cta>Tta	p.L130L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	130						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCAGAAGTTAGGGGACATTCC	0.428000													12	36					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292945	45292945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:45292945C>T	ENST00000447098.2	-	16	2419	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E	PTCH2_ENST00000372192.3_Missense_Mutation_p.G803E	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	803					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGTGATGCGCCCAGAAGCCCA	0.622000									Basal Cell Nevus syndrome				28	45					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69978066	69978066	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:69978066C>T	ENST00000355303.5	+	11	1444	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000538023.1_Missense_Mutation_p.P380L|ANO1_ENST00000316296.5_Missense_Mutation_p.P352L|ANO1_ENST00000531349.1_Missense_Mutation_p.P115L|ANO1_ENST00000398543.2_Missense_Mutation_p.P264L|ANO1_ENST00000530676.1_Missense_Mutation_p.P264L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	380					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACCATGTGCCCGCTTTGCGAC	0.602000													4	14					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592873	156592873	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:156592873C>T	ENST00000302938.4	-	1	402	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	103						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAAACCGGCCCCATCTGACA	0.552000													9	51					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55949909	55949909	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:55949909C>T	ENST00000527947.1	+	11	1250	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	RAE1_ENST00000395840.2_Intron|RAE1_ENST00000371242.2_Intron|RAE1_ENST00000395841.2_Intron			P78406	RAE1L_HUMAN	ribonucleic acid export 1	0					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			gagccaggctctgggttcaga	0.562000													4	13					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592000													10	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427855	179427855	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179427855C>T	ENST00000589042.1	-	326	83228	c.83004G>A	c.(83002-83004)gaG>gaA	p.E27668E	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.E26027E|TTN_ENST00000342992.6_Silent_p.E25100E|TTN_ENST00000460472.2_Silent_p.E18603E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.E18728E|TTN_ENST00000342175.6_Silent_p.E18795E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26027	Fibronectin type-III 101.						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)			GCTCTATCCTCTCCTGAGCAA	0.443000													38	114					0	0	1	0	0
NUDT2	318	broad.mit.edu	37	9	34343217	34343217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:34343217G>A	ENST00000379158.2	+	5	581	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	NUDT2_ENST00000379155.5_Missense_Mutation_p.G75R|NUDT2_ENST00000346365.4_Missense_Mutation_p.G75R	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	75	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CATTATTGAGGGGTTCAAAAG	0.522000													39	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449483	179449483	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179449483C>T	ENST00000589042.1	-	310	65109	c.64885G>A	c.(64885-64887)Gag>Aag	p.E21629K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19988K|TTN_ENST00000342992.6_Missense_Mutation_p.E19061K|TTN_ENST00000460472.2_Missense_Mutation_p.E12564K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12689K|TTN_ENST00000342175.6_Missense_Mutation_p.E12756K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19988	Fibronectin type-III 57.						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)			AAGATGTACTCCTGGCCTGGG	0.498000													30	174					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072466	20072466	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:20072466C>T	ENST00000276390.2	+	10	1105	c.1065C>T	c.(1063-1065)acC>acT	p.T355T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	355					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTATTCTAACCATGCCTAATG	0.393000													18	68					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987748	72987748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:72987748G>A	ENST00000305632.5	-	4	741	c.500C>T	c.(499-501)aCc>aTc	p.T167I	TBL2_ENST00000452475.1_Missense_Mutation_p.T167I|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.T131I	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	167										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCCCGCTTGGTCATCTTGAA	0.567000													32	60					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459978	107459978	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:107459978G>A	ENST00000409382.3	-	2	1066	c.456C>T	c.(454-456)tcC>tcT	p.S152S	ST6GAL2_ENST00000409087.3_Silent_p.S152S|ST6GAL2_ENST00000361686.4_Silent_p.S152S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	152					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTCCCCGGGGGAAGGGAATC	0.612000													17	162					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734624	141734624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:141734624C>T	ENST00000475668.2	+	16	1996	c.1942C>T	c.(1942-1944)Ctt>Ttt	p.L648F	MGAM_ENST00000549489.2_Missense_Mutation_p.L648F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	648	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGTTCAACCTTTTTGGCAT	0.502000													8	28					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72183972	72183972	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:72183972T>G	ENST00000337273.5	+	13	1797	c.1371T>G	c.(1369-1371)gaT>gaG	p.D457E	TNPO1_ENST00000454282.1_Missense_Mutation_p.D407E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D407E|TNPO1_ENST00000506351.2_Missense_Mutation_p.D449E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	457					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCCTCTCTGATAAAAAGGCTC	0.448000													13	60					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086790	39086790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:39086790C>T	ENST00000400482.3	-	3	1259	c.670G>A	c.(670-672)Gta>Ata	p.V224I	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V224I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	224					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)	AGGTCCCCTACCCGGAACATC	0.517000													9	60					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250989	21250989	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:21250989C>T	ENST00000298925.5	+	15	1775	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	NELL1_ENST00000532434.1_Missense_Mutation_p.T513I|NELL1_ENST00000357134.5_Missense_Mutation_p.T513I|NELL1_ENST00000325319.5_Missense_Mutation_p.T456I			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	513	EGF-like 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.T513N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGAACGGGACCATCTGCAGA	0.577000													5	28					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100626688	100626688	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:100626688C>T	ENST00000308731.7	-	4	405	c.240_splice	c.e4-1	p.R81_splice	BTK_ENST00000372880.1_Splice_Site_p.R81_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	81	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCACCTCTTCTCTGTAATGA	0.383000									Agammaglobulinemia, X-linked				26	18					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121212236	121212236	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:121212236G>A	ENST00000392870.2	+	14	1787	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Silent_p.V381V	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	486	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTCCACTGTGAAGGGCGTCA	0.607000													7	23					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111590639	111590639	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:111590639C>T	ENST00000304987.3	+	10	1580	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	469					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCGCTCATGCCTTTGAGGCAT	0.587000													6	35					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33991859	33991859	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:33991859G>A	ENST00000244137.6	-	4	411	c.378C>T	c.(376-378)gtC>gtT	p.V126V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Silent_p.V126V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	126					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CTACGTACTGGACGTCGTCCA	0.552000													40	88					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487278	248487278	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:248487278A>C	ENST00000317965.2	-	1	621	c.593T>G	c.(592-594)gTt>gGt	p.V198G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGAAAATAACCTCTTCAAA	0.433000													89	216					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264480	42264480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:42264480A>T	ENST00000327628.5	+	16	2513	c.2113A>T	c.(2113-2115)Aaa>Taa	p.K705*	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Nonsense_Mutation_p.K647*	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	705					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGCCACTTGAAATCCACGCC	0.547000													21	40					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													6	154					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573686	136573686	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:136573686G>A	ENST00000446465.2	+	2	1012	c.384G>A	c.(382-384)cgG>cgA	p.R128R	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.R128R	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	128	DUF6 1.					Golgi apparatus|integral to membrane											TTTCTGATCGGTCTAAAGTTC	0.403000													20	100					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145631424	145631424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:145631424C>T	ENST00000265271.5	+	9	1596	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	477					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGCCCTACCCCTCTGGTT	0.547000													51	128					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38798333C>T	ENST00000449082.2	-	9	1121	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	374					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)	CAAAAAAGATCATATAGATTT	0.473000													10	83					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400004	400004	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:400004G>A	ENST00000331563.2	+	6	1387	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	437					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACCTGAAGGACCGCCTGG	0.662000													3	12					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52520388	52520388	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:52520388G>A	ENST00000270649.6	-	5	1007	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ZNF614_ENST00000356322.6_Missense_Mutation_p.P155S	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AACTCAACAGGGTTATTTATT	0.318000													11	23					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534965	70534965	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:70534965G>A	ENST00000323786.5	-	9	1112	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	360					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATTCATCAGGGTGACCTCAGT	0.493000													8	33					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862636	10862636	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:10862636G>A	ENST00000559480.1	+	0	15																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ACTGGAATTGGAGGATCCTGT	0.498000													31	352					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43216976	43216976	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:43216976G>A	ENST00000255226.6	+	6	1488	c.672G>A	c.(670-672)ttG>ttA	p.L224L	SLC14A2_ENST00000586448.1_Silent_p.L224L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	224						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAGTGCCTTGAATTCCATCT	0.507000													70	219					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36479616	36479616	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:36479616C>T	ENST00000373191.4	+	11	1722	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	AGO3_ENST00000246314.6_Missense_Mutation_p.A224V	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GCTTGTTTTGCCACACAGAGG	0.418000													14	88					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706277	30706277	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:30706277A>T	ENST00000256246.2	-	1	331	c.257T>A	c.(256-258)aTa>aAa	p.I86K	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	86										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTCGATTTTATTTCTGAATT	0.393000													18	49					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624599	624599	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:624599C>T	ENST00000321878.5	+	2	684	c.525C>T	c.(523-525)ctC>ctT	p.L175L	PIGQ_ENST00000409527.2_Silent_p.L175L|PIGQ_ENST00000470411.2_Silent_p.L175L|PIGQ_ENST00000026218.5_Silent_p.L175L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	175					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGGTGCTCTTCCGCAGTG	0.706000													4	7					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39038877	39038877	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39038877C>T	ENST00000167588.3	-	2	461	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	140	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCAGGACACACCGAGCATTTT	0.313000													9	43					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31948483	31948483	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31948483C>T	ENST00000375331.2	+	7	1120	c.954C>T	c.(952-954)ctC>ctT	p.L318L	STK19_ENST00000375333.2_Silent_p.L322L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	322						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGGAACTGCTCCTATCAGAGC	0.612000													18	56					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678595	100678595	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100678595A>T	ENST00000306151.4	+	3	3962	c.3898A>T	c.(3898-3900)Aca>Tca	p.T1300S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1300	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)					CACCCTTTTAACAACTCCTGT	0.468000													53	200					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785672	129785672	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:129785672G>A	ENST00000358825.5	-	17	2652	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	PRDM10_ENST00000526082.1_Silent_p.L721L|PRDM10_ENST00000304538.6_Silent_p.L717L|PRDM10_ENST00000528746.1_Silent_p.L777L|PRDM10_ENST00000423662.2_Silent_p.L721L|PRDM10_ENST00000360871.3_Silent_p.L803L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCGGGTCGGAGCTTCCGAA	0.607000													32	72					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515023	149515023	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:149515023G>A	ENST00000378016.2	+	0	11413							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCTCCCTGGACGACTGCTT	0.697000													11	40					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454590	3454590	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:3454590C>T	ENST00000268655.4	+	2	1152	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ZNF174_ENST00000575752.1_Silent_p.P189P|ZNF174_ENST00000344823.5_Silent_p.P189P|ZNF174_ENST00000571936.1_Silent_p.P189P|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Silent_p.P189P	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	189					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GGCTGAGCCCCCATCATTGGG	0.547000													21	90					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681195	125681195	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:125681195G>A	ENST00000373656.3	-	2	1092	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZBTB26_ENST00000373654.1_Missense_Mutation_p.S340F	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ATCCTGTAAGGAACACTTCTG	0.403000													15	30					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813875	50813875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:50813875G>A	ENST00000540145.1	+	9	1853	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CYLD_ENST00000564326.1_Missense_Mutation_p.E477K|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.E477K|CYLD_ENST00000569418.1_Missense_Mutation_p.E477K|CYLD_ENST00000398568.2_Missense_Mutation_p.E477K|CYLD_ENST00000311559.9_Missense_Mutation_p.E480K|CYLD_ENST00000427738.3_Missense_Mutation_p.E480K			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	480	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGAAGTTAAGGAGAACCCTCC	0.517000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				19	44					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10224938	10224938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10224938C>T	ENST00000556468.1	+	13	1936	c.1909C>T	c.(1909-1911)Ccg>Tcg	p.P637S	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P637S|P2RY11_ENST00000321826.4_Missense_Mutation_p.P217S					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGCGGCCTGCCGCTGCTGCT	0.701000													17	78					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26800805	26800805	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:26800805G>A	ENST00000444914.3	+	1	495	c.75G>A	c.(73-75)ctG>ctA	p.L25L	SLC13A2_ENST00000545060.1_Silent_p.L25L|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Silent_p.L25L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	25						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTCTCCTGCTGCCTCTGCCCA	0.612000													5	24					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837252	7837252	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:7837252G>A	ENST00000054666.6	+	3	220	c.105G>A	c.(103-105)aaG>aaA	p.K35K	VAMP3_ENST00000470357.1_Silent_p.K7K	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	35	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACGTGGACAAGGTTCTGGAAA	0.517000													8	31					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416734	145416734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145416734C>T	ENST00000336751.5	+	4	1317	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	HFE2_ENST00000357836.5_Missense_Mutation_p.S247F|HFE2_ENST00000475797.1_Missense_Mutation_p.S134F|HFE2_ENST00000497365.1_Missense_Mutation_p.S134F	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	360					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTCCATTCCTGTGTCTTT	0.517000													5	24					0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67528372	67528372	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:67528372G>A	ENST00000261880.5	-	4	500	c.396C>T	c.(394-396)atC>atT	p.I132I	AAGAB_ENST00000561452.1_Silent_p.I23I|AAGAB_ENST00000542650.1_Silent_p.I23I	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	132			I -> L (in dbSNP:rs7173826).		protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGCCATGTTTGATGCACCATT	0.343000													14	41					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767424	12767424	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:12767424G>A	ENST00000456935.2	-	13	1645	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	MAN2B1_ENST00000221363.4_Silent_p.F534F	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	535					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCACAACGAAAACGCCTT	0.587000													12	89					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912350	100912350	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:100912350G>A	ENST00000328766.5	-	5	678	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ARMCX2_ENST00000356824.4_Silent_p.V75V|ARMCX2_ENST00000330154.2_Silent_p.V75V|ARMCX2_ENST00000467416.1_5'UTR	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	75						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTTCAGCACGGACTGGGGTTG	0.617000													11	16					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101826401	101826401	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:101826401C>T	ENST00000360035.2	+	0	3395					NR_002216.1															endometrium(2)|lung(8)	10						TAAAAGGAGCCCTTCGATGTC	0.517000													7	4					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620532	26620532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:26620532G>A	ENST00000256737.3	+	16	2510	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	ANO3_ENST00000525139.1_Missense_Mutation_p.G537E|ANO3_ENST00000537978.1_Missense_Mutation_p.G537E|ANO3_ENST00000531568.1_Missense_Mutation_p.G407E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	553						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTGTCTCAGGAATATTCTTC	0.368000													6	21					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875398	42875398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:42875398C>T	ENST00000025301.2	+	8	2691	c.2516C>T	c.(2515-2517)cCt>cTt	p.P839L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	839					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTGTTTACCTTCAGAACAC	0.338000													5	28					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295949	20295949	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:20295949C>T	ENST00000568211.1	+	1	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L	OR4N2_ENST00000315947.1_Silent_p.L114L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGGATTACTCCTTGTTGTGA	0.507000													17	141					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16049688	16049688	+	Splice_Site	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:16049688A>C	ENST00000268712.3	-	10	1340		c.e10+1		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAACTACTCACCGCTGAAAT	0.303000													9	59					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20112485	20112485	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:20112485A>G	ENST00000396085.1	+	28	5943	c.5582A>G	c.(5581-5583)aAg>aGg	p.K1861R	NAV2_ENST00000540292.1_Missense_Mutation_p.K1848R|NAV2_ENST00000527559.2_Missense_Mutation_p.K1846R|NAV2_ENST00000533917.1_Missense_Mutation_p.K922R|NAV2_ENST00000311043.8_Missense_Mutation_p.K922R|NAV2_ENST00000360655.4_Missense_Mutation_p.K1794R|NAV2_ENST00000349880.4_Missense_Mutation_p.K1858R|NAV2_ENST00000396087.3_Missense_Mutation_p.K1917R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1917						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGGAGATGAAGCTGACGGAT	0.517000													4	28					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352615	168352615	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:168352615C>T	ENST00000366806.2	+	30	4702	c.4560C>T	c.(4558-4560)gcC>gcT	p.A1520A	MLLT4_ENST00000400822.3_Silent_p.A1519A|MLLT4_ENST00000392108.3_Silent_p.A1520A|MLLT4_ENST00000392112.1_Silent_p.A1503A|MLLT4_ENST00000447894.2_Silent_p.A1520A|MLLT4_ENST00000351017.4_Silent_p.A1527A|MLLT4_ENST00000344191.4_Silent_p.A1520A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1520					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGGGACGCCAAGGAGAAGC	0.607000			T	MLL	AL								10	47					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55698960	55698960	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:55698960C>T	ENST00000376350.3	-	14	2509	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	PTPRH_ENST00000263434.5_Silent_p.L651L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	829	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTGGCCCACCAGGGAGAGTT	0.597000													11	44					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472389	71472389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:71472389G>A	ENST00000322937.6	+	13	1389	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	AMBN_ENST00000449493.2_Missense_Mutation_p.G414E	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	429					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.G429V(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCATGCCAGGAAACAAAGCC	0.502000													13	34					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785616	1785616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:1785616G>A	ENST00000539485.1	-	26	3508	c.3275C>T	c.(3274-3276)gCc>gTc	p.A1092V	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1045V|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1082V			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1082					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGGCGATGGCTTGGACGAA	0.617000													6	33					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22796732	22796732	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:22796732C>T	ENST00000266517.4	+	2	548	c.459C>T	c.(457-459)ggC>ggT	p.G153G	ETNK1_ENST00000335148.3_Silent_p.G153G	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	153					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACTTATTGGCTGTTACGTGG	0.353000													14	41					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622857	64622857	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:64622857G>A	ENST00000320631.3	-	4	1271	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	EHD1_ENST00000359393.2_Silent_p.Y339Y	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	339					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CAATCTTCTGGTAGATCTCTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	49					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973054	25973054	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:25973054G>A	ENST00000435504.4	-	12	1664	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ASXL2_ENST00000336112.4_Silent_p.F429F|ASXL2_ENST00000404843.1_Silent_p.F197F|ASXL2_ENST00000272341.4_Silent_p.F197F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGTGGAGAAGTTCGGCT	0.483000													56	133					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023862	18023862	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:18023862C>T	ENST00000361221.3	+	29	3986	c.3827C>T	c.(3826-3828)cCc>cTc	p.P1276L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1049L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1237L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1237L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P979L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1276					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGCAGGTGCCCTTGATGCTA	0.677000													14	40					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671160	127671160	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:127671160C>T	ENST00000508053.1	-	35	4808	c.3834G>A	c.(3832-3834)ggG>ggA	p.G1278G	FBN2_ENST00000262464.4_Silent_p.G1278G|FBN2_ENST00000507835.1_Silent_p.G128G|FBN2_ENST00000508989.1_Silent_p.G1245G			P35556	FBN2_HUMAN	fibrillin 2	1278	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACGATCTCCCATCTGGCA	0.433000													16	119					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576762	28576762	+	Missense_Mutation	SNP	C	C	T	rs142851621	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28576762C>T	ENST00000434452.1	-	15	2642	c.2488G>A	c.(2488-2490)Ggt>Agt	p.G830S	DSC3_ENST00000360428.4_Missense_Mutation_p.G830S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	830					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCACTTCACCGAGACGGGGT	0.423000													14	43					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149399	41149399	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:41149399C>T	ENST00000263413.3	-	17	2831	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	C6_ENST00000337836.5_Missense_Mutation_p.S856N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	856	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTTTGTGCTGTTGGATGA	0.418000													50	115					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873661	36873661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:36873661C>T	ENST00000429976.2	-	21	7528	c.7281G>A	c.(7279-7281)tgG>tgA	p.W2427*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.W1877*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.W1877*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2427					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						TGACATTCTTCCAGAGGCGGG	0.522000													12	73					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135589	156135589	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:156135589C>T	ENST00000329476.3	+	2	987	c.498C>T	c.(496-498)ttC>ttT	p.F166F	NPY2R_ENST00000506608.1_Silent_p.F166F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	166					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAATCAGCTTCCTGATTATTG	0.532000													6	22					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41236337	41236337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:41236337C>T	ENST00000372652.1	+	10	1425	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	NFYC_ENST00000372654.1_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000440226.3_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000372651.1_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000308733.5_Missense_Mutation_p.P405L			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	405					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CTGCATGCCCCTCTCCCAGGG	0.637000													10	39					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136569980	136569980	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:136569980G>A	ENST00000264162.2	-	7	2264	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	752	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCCCGGCAAGGTATATTGGA	0.458000													24	54					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210680	15210680	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:15210680C>T	ENST00000217246.4	+	6	908	c.513C>T	c.(511-513)ctC>ctT	p.L171L	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Silent_p.L171L	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	171	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCTGAAGCTCGTGAAAGAAA	0.358000													8	26					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13185043	13185043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:13185043G>A	ENST00000379345.2	+	5	483	c.242G>A	c.(241-243)aGt>aAt	p.S81N	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	222						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCTGAAGAGAGTCCCTCTGCC	0.577000													21	97					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41919965	41919965	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:41919965C>T	ENST00000269980.2	+	4	755	c.387C>T	c.(385-387)tcC>tcT	p.S129S	CTC-435M10.3_ENST00000540732.1_Silent_p.S163S|BCKDHA_ENST00000595085.1_Silent_p.S163S|BCKDHA_ENST00000457836.2_Silent_p.S107S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	129					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCCGGATCTCCTTCTACATGA	0.612000													18	65					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627863	170627863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:170627863C>T	ENST00000476287.1	+	2	1493	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.P474L|FAM120B_ENST00000537664.1_Missense_Mutation_p.P485L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	462					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAAGAAGTTCCCATGTATACA	0.483000													44	127					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958764	111958764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:111958764G>A	ENST00000305815.5	-	12	1621	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L409F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	457					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCAAATTTAAGGGCAGAGGCT	0.358000													6	23					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34156132	34156132	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34156132G>A	ENST00000257829.3	+	18	2116	c.1911_splice	c.e18+1	p.G637_splice	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Splice_Site_p.G565_splice	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	637	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GATTATCAAGGGGTAATGTGT	0.527000													13	35					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135439873	135439873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:135439873G>A	ENST00000394143.1	+	10	7229	c.6938G>A	c.(6937-6939)aGa>aAa	p.R2313K	GPR112_ENST00000394141.1_Missense_Mutation_p.R2108K|GPR112_ENST00000370652.1_Missense_Mutation_p.R2313K|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.R2108K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGAACAGAGAGAAGGACAA	0.333000													26	31					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769300	33769300	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:33769300G>C	ENST00000285013.6	-	5	1479	c.1204C>G	c.(1204-1206)Cca>Gca	p.P402A	SLFN13_ENST00000360502.2_Missense_Mutation_p.P84A|SLFN13_ENST00000542635.1_Missense_Mutation_p.P402A|SLFN13_ENST00000534689.1_Missense_Mutation_p.P84A|SLFN13_ENST00000533791.1_Missense_Mutation_p.P402A|SLFN13_ENST00000526861.1_Missense_Mutation_p.P402A	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	402						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAATGTCCTGGTGGAACTAGA	0.398000													11	22					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125047526	125047526	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:125047526G>A	ENST00000522917.1	+	19	2501	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.G765G	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	765						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCCTCCTGGGAAACGACCGG	0.493000													10	41					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785615	1785615	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:1785615G>A	ENST00000539485.1	-	26	3509	c.3276C>T	c.(3274-3276)gcC>gcT	p.A1092A	ATP8B3_ENST00000525591.1_Silent_p.A1045A|ATP8B3_ENST00000310127.6_Silent_p.A1082A			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1082					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGGCGATGGCTTGGACGA	0.617000													7	33					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118523903	118523903	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:118523903T>C	ENST00000336338.5	-	43	6059	c.5994A>G	c.(5992-5994)aaA>aaG	p.K1998K	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1998						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCAGGAGATTTTGTTAAAT	0.398000													25	45					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301735	140301735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:140301735C>T	ENST00000275884.6	-	2	880	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DENND2A_ENST00000537639.1_Missense_Mutation_p.D155N|DENND2A_ENST00000492720.1_Missense_Mutation_p.D155N|DENND2A_ENST00000496613.1_Missense_Mutation_p.D155N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	155										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAGGGGATCGTTCTGAAAG	0.602000													34	100					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686568	54686568	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:54686568G>A	ENST00000540264.2	-	2	1221	c.712C>T	c.(712-714)Cct>Tct	p.P238S	NFE2_ENST00000312156.4_Missense_Mutation_p.P238S|NFE2_ENST00000553070.1_Missense_Mutation_p.P238S|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.P238S			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	238					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TTGTCCGTAGGAAAAGGAATC	0.582000													6	32					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77116903	77116903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:77116903C>T	ENST00000264896.2	-	2	581	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	SCARB2_ENST00000452464.2_Missense_Mutation_p.G78R	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	78					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGGGTCTCCCCTCTGAGGATC	0.507000													10	34					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80014972	80014972	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:80014972C>T	ENST00000328827.4	-	3	904	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	178	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCATCATCTTCGTACTCATCT	0.333000													12	81					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958765	111958765	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:111958765G>A	ENST00000305815.5	-	12	1620	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	SLC9C1_ENST00000487372.1_Silent_p.A408A	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	456					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CAAATTTAAGGGCAGAGGCTG	0.358000													6	23					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62781357	62781357	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:62781357G>A	ENST00000582986.1	-	0	2493					NR_024386.1																						CTTCAGAGTGGGATCAGCAGA	0.607000													3	16					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129337	152129337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:152129337G>A	ENST00000316073.3	-	3	302	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	80	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGACCAACTGGAACACCAAC	0.463000													15	130					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427389	43427389	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:43427389C>T	ENST00000039989.4	+	13	1663	c.1649C>T	c.(1648-1650)cCt>cTt	p.P550L	TTC17_ENST00000299240.6_Missense_Mutation_p.P550L|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	550							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCCCAAACCCCTGACTGTTCC	0.423000													17	57					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193516	62193516	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62193516G>A	ENST00000467148.1	-	10	6507	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I	HELZ2_ENST00000427522.2_Silent_p.I1577I	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCCTCCGGGGATGTTGTAGG	0.662000													7	9					0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31130407	31130407	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31130407C>T	ENST00000376257.3	+	4	1705	c.951C>T	c.(949-951)ttC>ttT	p.F317F	TCF19_ENST00000376255.4_Silent_p.F317F|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	317					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						ACGTCTGGTTCCATGTGGCCT	0.637000													13	48					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2257215	2257215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:2257215C>T	ENST00000569417.1	+	6	796	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	MLST8_ENST00000397124.1_Nonsense_Mutation_p.Q148*|MLST8_ENST00000301724.10_Nonsense_Mutation_p.Q148*|MLST8_ENST00000565250.1_Nonsense_Mutation_p.Q148*|MLST8_ENST00000382450.4_Nonsense_Mutation_p.Q147*|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301725.7_Nonsense_Mutation_p.Q167*|MLST8_ENST00000564088.1_Nonsense_Mutation_p.Q148*	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	148					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CGTGGGTGACCAGAGCGGGGC	0.642000													28	107					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225925	100225925	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100225925G>A	ENST00000462107.1	-	12	1682	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.F465F|TFR2_ENST00000544242.1_Silent_p.F6F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	465					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCGGGGCCGGAAGCCTGGGG	0.627000													10	51					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569190	5569190	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:5569190G>A	ENST00000331789.5	-	2	290	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	33					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCCCCACGATGGAGGGGAAGA	0.716000													11	35					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:137928454G>A	ENST00000409968.1	+	7	1847	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.G526R(1)|p.G557R(1)		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)		CCCTGATCATGGAAAATGTGG	0.522000													11	19					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572674	25572674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:25572674C>T	ENST00000269141.3	-	9	1712	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R399Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGGCGAACCGTCCAGTAGG	0.527000													18	57					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44585982	44585982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:44585982G>A	ENST00000245121.5	+	5	484	c.290G>A	c.(289-291)aGa>aAa	p.R97K	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R169K|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	169						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATATATCAAGAATCCGTAAA	0.443000													33	94					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53476659	53476659	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:53476659G>A	ENST00000262133.6	+	3	598	c.461G>A	c.(460-462)aGa>aAa	p.R154K		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	154					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGATTAGAAAGAAACTTCACT	0.373000													7	25					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686783	53686783	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:53686783G>A	ENST00000262135.4	-	15	1909	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L	RPGRIP1L_ENST00000563746.1_Silent_p.L606L|RPGRIP1L_ENST00000564374.1_Silent_p.L606L|RPGRIP1L_ENST00000379925.3_Silent_p.L606L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	606					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATTTCAAATAGATTTTCGCCT	0.378000													10	37					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	15					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294199	31294199	+	Silent	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:31294199T>G	ENST00000542188.1	-	27	5068	c.4755A>C	c.(4753-4755)ccA>ccC	p.P1585P	TRPM1_ENST00000256552.6_Silent_p.P1568P|TRPM1_ENST00000397795.2_Silent_p.P1546P	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCTGAGAGATGGGAATCCCA	0.433000													35	89					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944414	144944414	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:144944414C>T	ENST00000525985.1	-	2	3079	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q				P58107	EPIPL_HUMAN	epiplakin 1	1003						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)			ACCCTCAGCCCGCTTCAGCCT	0.617000													4	15					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627317	158627317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158627317C>T	ENST00000368148.3	-	19	2935	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E919K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	919					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAATAGGTTCCTTCTCTCTG	0.468000													8	109					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602531	18602531	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:18602531G>A	ENST00000546162.2	+	0	1105					NR_003569.1																						GCCCACTGCTGAAGGCCATCT	0.567000													10	46					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273945	10273945	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:10273945G>A	ENST00000396573.2	-	3	633	c.324C>T	c.(322-324)gcC>gcT	p.A108A	GRIN2A_ENST00000330684.3_Silent_p.A108A|GRIN2A_ENST00000396575.2_Silent_p.A108A|GRIN2A_ENST00000562109.1_Silent_p.A108A|GRIN2A_ENST00000404927.2_Silent_p.A108A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	108					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGGGCTACGGCCTCCTGGT	0.612000													9	83					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472223	44472223	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:44472223G>A	ENST00000217455.4	-	5	874	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	262					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AAGGGGGCGTGGAACCACATG	0.592000													10	19					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152419175	152419175	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:152419175C>T	ENST00000397345.3	-	120	19043	c.18841G>A	c.(18841-18843)Gaa>Aaa	p.E6281K	NEB_ENST00000172853.10_Missense_Mutation_p.E4580K|NEB_ENST00000604864.1_Missense_Mutation_p.E6281K|NEB_ENST00000603639.1_Missense_Mutation_p.E6281K|NEB_ENST00000409198.1_Missense_Mutation_p.E4580K|NEB_ENST00000427231.2_Missense_Mutation_p.E6281K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6290					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGGTTCTTCCAGAAGAGAC	0.498000													4	9					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113976	66113976	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:66113976G>A	ENST00000311181.4	-	1	1187	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	347					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TGATTCGGTTGAAGCCGTACT	0.622000													38	102					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639266	15639266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:15639266C>T	ENST00000378076.3	-	21	2504	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	717					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACATTTTCCATCTTGTACT	0.453000													15	37					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426990	27426990	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:27426990A>G	ENST00000263980.3	-	12	2831	c.2256T>C	c.(2254-2256)gcT>gcC	p.A752A	SLC9A1_ENST00000545949.1_Silent_p.A413A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	752					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCCTCCTCAGCCACCTTTG	0.617000													55	144					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17654374	17654374	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:17654374C>T	ENST00000335393.4	+	13	1719	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	FAM129C_ENST00000600871.1_Silent_p.I473I|FAM129C_ENST00000449408.2_Silent_p.I253I|FAM129C_ENST00000595684.1_Silent_p.I527I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Silent_p.I527I|FAM129C_ENST00000300971.2_Silent_p.I527I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Silent_p.I496I|FAM129C_ENST00000601861.1_Silent_p.I496I	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	527										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGAGGTTCATCCGAGGCTGGG	0.557000													4	41					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77576282	77576282	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:77576282C>T	ENST00000361786.2	+	3	581	c.264C>T	c.(262-264)acC>acT	p.T88T	KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.T88T|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	88										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CCTTCCCTACCCTGTCTCCCA	0.493000													19	33					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301209	222301209	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:222301209G>A	ENST00000281821.2	-	13	2297	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	EPHA4_ENST00000409854.1_Silent_p.I752I|EPHA4_ENST00000409938.1_Silent_p.I752I|EPHA4_ENST00000392071.4_Silent_p.I701I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	752	Protein kinase.					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)		TGTTCACCAGGATGTTCCGTG	0.502000													13	50					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702583	30702583	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:30702583G>A	ENST00000256246.2	-	1	4025	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1317										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGCCCATAAGGAAGTTTCCTG	0.373000													19	79					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524991	187524991	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:187524991G>A	ENST00000441802.2	-	19	10898	c.10689C>T	c.(10687-10689)gtC>gtT	p.V3563V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3563	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTCCCAATGACGCCACCTG	0.493000										HNSCC(5;0.00058)			7	14					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907803	180907803	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:180907803C>T	ENST00000367588.4	+	6	2929	c.2874C>T	c.(2872-2874)agC>agT	p.S958S	KIAA1614_ENST00000367587.1_Silent_p.S579S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	958	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAGAGGGAAGCCTGCAGAGGA	0.567000													4	38					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736695	27736695	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:27736695G>A	ENST00000430629.2	-	8	1045	c.830C>T	c.(829-831)cCa>cTa	p.P277L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	277					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTGTCCACTGGGTAACTAAA	0.493000													3	19					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400005	400005	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:400005G>A	ENST00000331563.2	+	6	1388	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	438					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCTGAAGGACCGCCTGGC	0.662000													3	12					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869502	107869502	+	Missense_Mutation	SNP	G	G	A	rs104886216		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:107869502G>A	ENST00000328300.6	+	36	3413	c.3169G>A	c.(3169-3171)Gga>Aga	p.G1057R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1057R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1057	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						TGGCTCCCCAGGATTACCTGG	0.448000									Alport syndrome with Diffuse Leiomyomatosis				23	17					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9272036	9272036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9272036C>T	ENST00000247956.6	+	7	2020	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	ZNF317_ENST00000360385.3_Missense_Mutation_p.S540F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GACCACTCATCCCTCAGGAGC	0.567000													15	40					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108380723	108380723	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:108380723G>A	ENST00000361582.3	+	20	2429		c.e20-1		DZIP3_ENST00000463306.1_Splice_Site	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3						protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTGCTCAATAGGGCTCAGCTG	0.353000													6	18					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46826784C>T	ENST00000283296.7	-	17	3144	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_ENST00000265417.7_Silent_p.T952T|GPR116_ENST00000456426.2_Silent_p.T810T|GPR116_ENST00000362015.4_Silent_p.T952T|GPR116_ENST00000545669.1_Silent_p.T381T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000													9	62					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250393	1250393	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:1250393C>T	ENST00000348261.5	+	7	1189	c.941C>T	c.(940-942)cCc>cTc	p.P314L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P314L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P314L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCGCATGCCCTGCACCCTG	0.672000													7	14					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686137	91686137	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:91686137A>T	ENST00000375835.4	-	5	1066	c.760T>A	c.(760-762)Tcc>Acc	p.S254T	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	254	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGGCGAAGGAGATGGACCGC	0.498000													8	18					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57922304	57922304	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:57922304G>A	ENST00000355673.3	+	10	3137	c.2781G>A	c.(2779-2781)aaG>aaA	p.K927K	MBD6_ENST00000431731.2_Silent_p.K927K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	927						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGAGCCCAAGGATCCACCCC	0.587000													7	62					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286517	1286517	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:1286517C>T	ENST00000381867.1	+	7	2078	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	SNPH_ENST00000381873.3_Missense_Mutation_p.P435L			O15079	SNPH_HUMAN	syntaphilin	435					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTGGTGCCGGCCGTGCCC	0.677000													8	5					0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76523697	76523697	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:76523697A>G	ENST00000557943.1	-	10	939	c.859T>C	c.(859-861)Tta>Cta	p.L287L	ETFA_ENST00000559602.1_Silent_p.L183L|ETFA_ENST00000433983.2_Silent_p.L238L|ETFA_ENST00000560726.1_Silent_p.L27L	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	287					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ATCCCAGCTAAATGTTGGATG	0.313000													10	18					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101091709	101091709	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:101091709G>A	ENST00000361708.2	-	16	1536	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	393					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACTAACCTGGAATTGCGGCC	0.517000													26	30					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269778	36269778	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:36269778G>A	ENST00000394571.2	+	6	916	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G220R|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G211R	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	306					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAGTCTGGAAGGAGCCACACA	0.587000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	43					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:58564905C>T	ENST00000282326.1	+	6	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617000													11	41					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870327	47870327	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47870327C>T	ENST00000328771.4	+	7	2032	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	561						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCTCTACCTCCGGGACCAGG	0.627000													12	27					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395371	76395371	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:76395371G>A	ENST00000357063.3	+	15	3682	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	LMO7_ENST00000465261.2_Missense_Mutation_p.D523N|LMO7_ENST00000321797.8_Missense_Mutation_p.D523N|LMO7_ENST00000341547.4_Missense_Mutation_p.D474N|LMO7_ENST00000526202.1_Missense_Mutation_p.D373N|LMO7_ENST00000377534.3_Missense_Mutation_p.D808N			Q8WWI1	LMO7_HUMAN	LIM domain 7	808						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCTTTTGATGATGTGCTGGA	0.443000													8	20					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	6					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384058	62384058	+	Missense_Mutation	SNP	G	G	C	rs149098151		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62384058G>C	ENST00000531383.1	-	4	1035	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	B3GAT3_ENST00000534026.1_Missense_Mutation_p.R277G|B3GAT3_ENST00000265471.5_Missense_Mutation_p.R277G			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	277					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						AGGTGGCCCCGGGGAGCGGTG	0.612000													9	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683425	100683425	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100683425C>T	ENST00000306151.4	+	3	8792	c.8728C>T	c.(8728-8730)Cct>Tct	p.P2910S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2910	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)					CAGTTCTTCTCCTACAACTGC	0.507000													56	195					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169367	138169367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:138169367G>A	ENST00000409968.1	+	14	3062	c.2884G>A	c.(2884-2886)Ggc>Agc	p.G962S	THSD7B_ENST00000272643.3_Missense_Mutation_p.G962S|THSD7B_ENST00000413152.2_Missense_Mutation_p.G931S|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)		ATGTGGAGAAGGCCTGCGCTT	0.512000													19	42					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323480	10323480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:10323480G>A	ENST00000403437.2	-	3	159	c.65C>T	c.(64-66)tCa>tTa	p.S22L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	22	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCTTTTCTGATTTTCGAAG	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	73					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862782	84862782	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:84862782G>A	ENST00000403245.3	-	23	3225	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.A961A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1037					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TGATCTGATGGGCTTCCTTGA	0.403000													7	26					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906319	13906319	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:13906319G>A	ENST00000279593.3	-	3	1151	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	314					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGGCTCAGGGATGAAGCTGT	0.488000													15	51					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38138100	38138100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38138100G>A	ENST00000308059.6	+	15	2233	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D738N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D738N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	738					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)		CTACTCTGTGGATGATGTGAT	0.517000													16	65					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370307	126370307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:126370307G>A	ENST00000394329.3	+	9	8149	c.8136G>A	c.(8134-8136)atG>atA	p.M2712I	FAT4_ENST00000335110.5_Missense_Mutation_p.M1010I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2712	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGGCAACATGGAAAATAGTT	0.373000													23	50					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425644	49425644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:49425644G>A	ENST00000301067.7	-	39	12843	c.12844C>T	c.(12844-12846)Cga>Tga	p.R4282*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTGAGGTCGAGGCCCTGCC	0.677000													3	28					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671831	45671831	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:45671831C>T	ENST00000308064.2	-	4	1313	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	215					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCGCGCAGGTCGTTCACCTCG	0.677000													11	49					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494764	55494764	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:55494764C>T	ENST00000543010.1	+	6	1841	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	NLRP2_ENST00000427260.2_Silent_p.A543A|NLRP2_ENST00000339757.7_Silent_p.A544A|NLRP2_ENST00000537859.1_Silent_p.A544A|NLRP2_ENST00000538819.1_Silent_p.A542A|NLRP2_ENST00000391721.4_Silent_p.A542A|NLRP2_ENST00000448584.2_Silent_p.A566A|NLRP2_ENST00000263437.6_Silent_p.A563A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	566					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAGAGCCAAGGAGTTGG	0.532000													19	31					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82536106	82536106	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:82536106G>A	ENST00000313010.3	-	9	1527	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	PRCP_ENST00000393399.2_Silent_p.L466L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Silent_p.L340L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	445					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACTGCAACCAGAGTGTCTGTG	0.468000													5	26					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73048760	73048760	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:73048760G>A	ENST00000311669.8	-	5	765	c.672C>T	c.(670-672)ccC>ccT	p.P224P	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	224	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGTTGGCATGGGGAGCTTTTA	0.532000													4	33					0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153346314	153346314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:153346314G>A	ENST00000368737.3	-	3	385	c.268C>T	c.(268-270)Cac>Tac	p.H90Y		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	90					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TACTCTTTGTGGGTGTGGTAA	0.488000													24	39					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060865	87060865	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:87060865G>T	ENST00000265723.4	-	15	1859	c.1748C>A	c.(1747-1749)aCc>aAc	p.T583N	ABCB4_ENST00000545634.1_Missense_Mutation_p.T583N|ABCB4_ENST00000359206.3_Missense_Mutation_p.T583N|ABCB4_ENST00000453593.1_Missense_Mutation_p.T583N|ABCB4_ENST00000358400.3_Missense_Mutation_p.T583N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	583	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACAATGGTGGTCCGGCCTTC	0.473000													8	81					0.000157383	0.000159128	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114058043	114058043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:114058043G>A	ENST00000462705.1	-	12	2637	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.R679*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.R606*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	679					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)		GCCACGTGTCGCTCCAGGAGG	0.652000													6	62					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236190	106236190	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:106236190G>A	ENST00000390551.2	-	0	613																											CGTACCACTTGAACTGGACCT	0.597000													27	145					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346880	48346880	+	Missense_Mutation	SNP	C	C	T	rs144142268		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:48346880C>T	ENST00000319856.4	+	1	409	c.388C>T	c.(388-390)Cat>Tat	p.H130Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTTTGGAGCTCATTTTTTGGG	0.458000													32	167					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57670630	57670630	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:57670630C>T	ENST00000554048.2	-	3	196	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CCTAGCTCTTCGATTCTGAAA	0.423000													16	50					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002303	197002303	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:197002303G>A	ENST00000263955.4	-	8	1273	c.987C>T	c.(985-987)tcC>tcT	p.S329S	STK17B_ENST00000409228.1_Silent_p.S329S	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	329					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TTCCATTACAGGAGGATTTAG	0.418000													6	58					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976856	106976856	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:106976856G>A	ENST00000369701.3	+	19	2937	c.2710G>A	c.(2710-2712)Gct>Act	p.A904T	SORCS3_ENST00000369699.4_Missense_Mutation_p.A190T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	904	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCAGACACAGCTGTCCTCTT	0.507000													10	33					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19426979	19426979	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:19426979G>C	ENST00000375267.2	-	89	13115	c.13112C>G	c.(13111-13113)cCg>cGg	p.P4371R	UBR4_ENST00000375224.1_Missense_Mutation_p.P78R|UBR4_ENST00000375254.3_Missense_Mutation_p.P4371R|UBR4_ENST00000375217.2_Missense_Mutation_p.P4364R|UBR4_ENST00000543981.1_Missense_Mutation_p.P62R|UBR4_ENST00000375226.2_Missense_Mutation_p.P4347R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4371					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGCTATACGGGTTCCCAGG	0.517000													14	78					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212683	26212683	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:26212683C>T	ENST00000379034.1	+	2	869	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	240	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCAACAGAACCTCCCAACATT	0.498000													14	33					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6253009	6253009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:6253009C>A	ENST00000234875.4	-	3	261	c.223G>T	c.(223-225)Gag>Tag	p.E75*	RPL22_ENST00000497965.1_Nonsense_Mutation_p.E42*|RPL22_ENST00000484532.1_Nonsense_Mutation_p.E42*	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAAGGCACCTCGGATGTCACG	0.567000			T	RUNX1	"""AML, CML"""								28	47					2.46105e-21	2.55439e-21	1	1	0
VCAN	1462	broad.mit.edu	37	5	82838004	82838004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:82838004C>T	ENST00000265077.3	+	8	9747	c.9182C>T	c.(9181-9183)tCc>tTc	p.S3061F	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S2074F|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3061	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S3061F(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCACCATTTTCCCTTCTGGAG	0.423000													5	61					0	0	1	0	0
CCDC103	388389	broad.mit.edu	37	17	42980073	42980073	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:42980073C>T	ENST00000417826.2	+	4	712	c.617C>T	c.(616-618)tCc>tTc	p.S206F	CCDC103_ENST00000410006.2_Missense_Mutation_p.S206F|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	206										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				AACCCCAGATCCGTGAAGGAG	0.627000													4	36					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84668480	84668480	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:84668480T>A	ENST00000370689.2	+	8	1021	c.757T>A	c.(757-759)Tct>Act	p.S253T	PRKACB_ENST00000370682.3_Missense_Mutation_p.S257T|PRKACB_ENST00000370685.3_Missense_Mutation_p.S300T|PRKACB_ENST00000370680.1_Missense_Mutation_p.S259T|PRKACB_ENST00000394838.2_Missense_Mutation_p.S260T|PRKACB_ENST00000394839.2_Missense_Mutation_p.S223T|PRKACB_ENST00000370688.3_Missense_Mutation_p.S253T	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	253	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AAAGATTGTTTCTGGAAAGGT	0.328000													11	27					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268882	44268882	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:44268882C>T	ENST00000315087.7	-	4	972	c.311_splice	c.e4-1	p.K104_splice	ST8SIA5_ENST00000538168.1_Splice_Site_p.K140_splice|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Splice_Site_p.K73_splice	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	104					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACAGAGTAGACCTGCCAGGCA	0.587000													5	30					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003979	34003979	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:34003979G>A	ENST00000382491.3	-	28	4031	c.3907C>T	c.(3907-3909)Cca>Tca	p.P1303S	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1350S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1389S|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1350	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTGGGTCTGGGGTGGGAACA	0.438000													9	21					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421006	55421006	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:55421006G>A	ENST00000242994.3	+	2	1161	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	261					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCATCAGTGGGAACTTCTCCT	0.502000													19	92					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692836	100692836	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:100692836G>A	ENST00000268070.4	-	10	1559	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	485	Disintegrin.				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)		TCTGCAGAAGGTGGCATTCAT	0.612000													7	55					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2																						ATACACCCAGACCACCACCAC	0.637000													3	32					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930495	46930495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:46930495C>T	ENST00000264318.3	-	9	2394	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	471					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGCAGATCCAACTGAAGC	0.473000													6	47					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128867249	128867249	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:128867249T>G	ENST00000375990.3	+	5	781	c.378T>G	c.(376-378)ttT>ttG	p.F126L	UGGT1_ENST00000259253.6_Missense_Mutation_p.F150L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	150					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTAATTCGTTTTTTTCAGTGC	0.373000													9	59					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	G	A	rs149221663		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:10348605G>A	ENST00000255381.2	-	36	5354	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1748					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCTGGACGATGTCCTCCA	0.468000													26	78					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464744	37464744	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:37464744G>A	ENST00000299824.1	+	2	365	c.176G>A	c.(175-177)gGc>gAc	p.G59D	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.G59D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	59					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCACGGGCGGCCGCCGCAAG	0.672000													12	29					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135206234	135206234	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:135206234G>A	ENST00000409645.1	+	17	2294	c.2042G>A	c.(2041-2043)tGc>tAc	p.C681Y	MGAT5_ENST00000281923.2_Missense_Mutation_p.C681Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	681					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGTGACCTGCCAAAGCTCA	0.537000													4	176					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591769	81591769	+	Silent	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:81591769T>G	ENST00000356860.3	-	35	3161	c.2823A>C	c.(2821-2823)cgA>cgC	p.R941R	CACNA2D1_ENST00000356253.5_Silent_p.R953R|CACNA2D1_ENST00000535308.1_Silent_p.R153R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	953						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCTCAAGGAGTCGTGGAAAGG	0.328000													5	7					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935695	30935695	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:30935695C>T	ENST00000355537.3	+	2	1373	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	409					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)					CCCAGCGACCCCGAGGTGCCT	0.627000													17	43					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110201639	110201639	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:110201639C>T	ENST00000369833.1	+	5	1265	c.351C>T	c.(349-351)ttC>ttT	p.F117F	GSTM4_ENST00000326729.5_Silent_p.F158F|GSTM4_ENST00000369836.4_Silent_p.F158F|GSTM4_ENST00000336075.5_Silent_p.F97F|GSTM4_ENST00000495742.1_3'UTR			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	158	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTGTAGATTTCCTCGCCTATG	0.488000													96	266					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95508169	95508169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:95508169C>T	ENST00000380180.3	+	9	792	c.641C>T	c.(640-642)cCc>cTc	p.P214L	PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P194L|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P194L|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000514743.1_Intron	NM_001011515.2	NP_001011515.1	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	0					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTCTTTAGTCCCAAATACACA	0.393000													5	13					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732963	74732963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74732963G>A	ENST00000392485.2	-	1	452	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R94C|SRSF2_ENST00000359995.5_Missense_Mutation_p.R94C	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	94					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TCCGGGGGGCGGCCGTAGCGC	0.726000			Mis		"""MDS, CLL"""								19	51					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805786	169805786	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:169805786G>A	ENST00000274629.4	-	4	940	c.498C>T	c.(496-498)ttC>ttT	p.F166F	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	166					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CGGTCAGCAGGAAGGTGGGCC	0.607000													14	40					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790815	194790815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:194790815C>T	ENST00000310380.6	-	4	919	c.811G>A	c.(811-813)Gag>Aag	p.E271K	XXYLT1_ENST00000429994.1_Missense_Mutation_p.E125K|XXYLT1_ENST00000355729.4_Missense_Mutation_p.E68K|XXYLT1_ENST00000356740.5_Missense_Mutation_p.E65K|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.E68K	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	271						integral to membrane	transferase activity, transferring glycosyl groups										TGGGGGTTCTCATGGCGGAAC	0.672000													16	30					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418834	105418834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:105418834G>A	ENST00000333244.5	-	7	3073	c.2954C>T	c.(2953-2955)tCc>tTc	p.S985F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	985						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCCCC	0.612000													71	248					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738864	38738864	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38738864C>T	ENST00000449082.2	-	27	5846	c.5847G>A	c.(5845-5847)atG>atA	p.M1949I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1949					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)	CAATCAGCTCCATACTGGTGG	0.473000													3	43					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:108568024G>A	ENST00000295756.6	+	5	456	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	76					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000													8	37					0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21161793	21161793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:21161793G>A	ENST00000336811.6	+	2	670	c.70G>A	c.(70-72)Gct>Act	p.A24T	RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_5'UTR|ANG_ENST00000397990.4_Missense_Mutation_p.A24T|RP11-903H12.3_ENST00000554286.1_lincRNA|AL163636.6_ENST00000553909.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	24					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		ACCGACCCTGGCTCAGGATAA	0.567000													21	41					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189898825	189898825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:189898825C>T	ENST00000374866.3	-	54	4745	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1491	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAATTTCAACGCCGAATTCC	0.473000													4	50					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053956	32053956	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:32053956G>A	ENST00000438447.1	+	10	2255	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G623R			O15018	PDZD2_HUMAN	PDZ domain containing 2	623	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCAAATGGATCAGCTGC	0.483000													8	43					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100215612	100215612	+	Silent	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:100215612T>C	ENST00000354410.5	+	7	1254	c.625T>C	c.(625-627)Ttg>Ctg	p.L209L	MEF2A_ENST00000453228.2_Silent_p.L207L|MEF2A_ENST00000338042.6_Silent_p.L207L|MEF2A_ENST00000557942.1_Silent_p.L207L|MEF2A_ENST00000449277.2_Silent_p.L139L|MEF2A_ENST00000557785.1_Silent_p.L207L|MEF2A_ENST00000558812.1_Silent_p.L139L	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	209					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AGGTGGGATGTTGAGCACTAC	0.433000													6	43					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:32209435C>T	ENST00000396193.1	-	3	863	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000													10	42					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42264381	42264381	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:42264381G>A	ENST00000379310.3	-	33	3965	c.3897C>T	c.(3895-3897)atC>atT	p.I1299I	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CCTCAGATTCGATGTGTGCAG	0.403000													5	47					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228752	21228752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:21228752C>T	ENST00000233242.1	-	26	11115	c.10988G>A	c.(10987-10989)gGa>gAa	p.G3663E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3663					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTAAGGATCCTGCAATGTC	0.438000													7	31					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490826	19490826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19490826C>T	ENST00000396229.2	+	14	2992	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	TMC5_ENST00000381414.4_Missense_Mutation_p.S748F|TMC5_ENST00000541464.1_Missense_Mutation_p.S696F|TMC5_ENST00000564959.1_Missense_Mutation_p.S431F|TMC5_ENST00000561503.1_Missense_Mutation_p.S389F|TMC5_ENST00000542583.2_Missense_Mutation_p.S748F|TMC5_ENST00000219821.5_Missense_Mutation_p.S502F|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	748						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAGTCAATTCCTTCCTGGGG	0.458000													42	115					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488380	147488380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:147488380G>A	ENST00000359874.3	+	18	1745	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	SPINK5_ENST00000398454.1_Missense_Mutation_p.V558I|SPINK5_ENST00000256084.7_Missense_Mutation_p.V558I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	558					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ggctgaaaaagttaagagaga	0.388000													9	68					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598708	28598708	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28598708C>T	ENST00000434452.1	-	8	1155	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	DSC3_ENST00000360428.4_Missense_Mutation_p.G334E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	334	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCTATCAATCCAAAAAACTG	0.313000													14	43					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32438053	32438053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:32438053C>T	ENST00000332351.3	-	5	1268	c.984G>A	c.(982-984)tgG>tgA	p.W328*	WT1_ENST00000448076.3_Nonsense_Mutation_p.W328*|WT1_ENST00000379079.2_Nonsense_Mutation_p.W116*|WT1_ENST00000530998.1_Intron	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	260					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GCCCTTCTGTCCATTTCACTG	0.557000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				46	268					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634925	33634925	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:33634925C>T	ENST00000380099.3	+	4	1717	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	570	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGAGGAAATCCTACTGTGTT	0.483000													15	46					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782166	134782166	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:134782166G>A	ENST00000503143.2	-	1	872	c.633C>T	c.(631-633)tcC>tcT	p.S211S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	211	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGGTGAGGGATAGTGATA	0.572000													11	40					0	0	1	0	0
PPCDC	60490	broad.mit.edu	37	15	75341549	75341549	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:75341549C>T	ENST00000342932.3	+	6	732	c.588C>T	c.(586-588)ttC>ttT	p.F196F	PPCDC_ENST00000568649.1_Silent_p.F153F|PPCDC_ENST00000567336.1_Silent_p.F164F|PPCDC_ENST00000564923.1_Silent_p.F121F|PPCDC_ENST00000563393.1_Silent_p.F73F	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	196					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						AAGTCCTCTTCCAGCACAGTG	0.552000													9	29					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382302	48382302	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:48382302C>T	ENST00000222002.3	-	4	697	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCTGTTTCAGCTCCTCATAAC	0.473000													23	102					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427388	43427388	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:43427388C>T	ENST00000039989.4	+	13	1662	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	TTC17_ENST00000299240.6_Missense_Mutation_p.P550S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	550							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GGCCCAAACCCCTGACTGTTC	0.418000													17	57					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18891609G>A	ENST00000317658.3	+	1	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000													7	48					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300032	112300032	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:112300032C>T	ENST00000492406.1	+	6	1351	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	356						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCAGGCCCTCCCTGGAATTTT	0.453000													10	58					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27372498	27372498	+	Splice_Site	SNP	C	C	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:27372498C>G	ENST00000358918.3	-	7	1065		c.e7-1		APP_ENST00000346798.3_Splice_Site|APP_ENST00000440126.3_Splice_Site|APP_ENST00000439274.2_Splice_Site|APP_ENST00000359726.3_Intron|APP_ENST00000357903.3_Splice_Site|APP_ENST00000354192.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000448388.2_Intron	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein						adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GAGCACACCTCTAATCAGAGG	0.498000													3	28					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432259	228432259	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:228432259C>T	ENST00000570156.2	+	12	3818	c.3744C>T	c.(3742-3744)caC>caT	p.H1248H	OBSCN_ENST00000422127.1_Silent_p.H1156H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.H1156H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	198	Ig-like 12.		Q -> H.		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCCTTCCACCTGCACATCA	0.532000													24	88					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626906	108626906	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:108626906C>T	ENST00000264047.2	+	9	1608	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	SLC5A7_ENST00000409059.1_Silent_p.F444F|SLC5A7_ENST00000540517.1_Silent_p.F339F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	444					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGGCCTCTTCCTGAGAATAA	0.443000													4	47					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224060	49224060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:49224060G>A	ENST00000222145.4	-	12	3091	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	963					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.P963A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGTTCTCAAGGAGACGTGGCC	0.592000													26	208					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582407	82582407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:82582407G>A	ENST00000423517.2	-	5	8199	c.7862C>T	c.(7861-7863)tCt>tTt	p.S2621F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2621F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2552					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGAACTACAGAAAACACAGG	0.453000													22	80					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237290	9237290	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9237290C>T	ENST00000305444.2	-	1	336	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAGAATTCCATTTTCCAAT	0.478000													32	67					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922986	35922986	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:35922986G>A	ENST00000490799.1	-	17	2528	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	SLC26A8_ENST00000394602.2_Silent_p.I620I|SLC26A8_ENST00000355574.2_Silent_p.I725I	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	725	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGAAATCCAGGATGATGGTGT	0.547000													14	39					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29908761	29908761	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:29908761G>A	ENST00000256062.5	-	4	761	c.288C>T	c.(286-288)ttC>ttT	p.F96F	TMTC1_ENST00000539277.1_Silent_p.F204F|TMTC1_ENST00000551659.1_Silent_p.F204F|TMTC1_ENST00000552618.1_Silent_p.F204F|TMTC1_ENST00000381224.2_Silent_p.F96F	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	204						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAGCAGCAAGAAGAAGGGAG	0.463000													10	21					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47230774	47230774	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47230774C>T	ENST00000391910.3	-	9	1654	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.G395R|STRN4_ENST00000539396.1_Missense_Mutation_p.G276R			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	395						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.G395R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCACCTCCCCGCCCCCGATA	0.617000													3	23					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121702361	121702361	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:121702361C>T	ENST00000264808.3	-	12	1620	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	PRDM5_ENST00000428209.2_Silent_p.K429K|PRDM5_ENST00000515109.1_Silent_p.K429K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	460					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACACCTATACTTCTTGTGTC	0.398000													11	59					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2601589	2601589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:2601589G>A	ENST00000570628.1	-	10	1553	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	CLUH_ENST00000435359.1_Missense_Mutation_p.T483M|CLUH_ENST00000538975.1_Missense_Mutation_p.T483M|CLUH_ENST00000575014.1_Missense_Mutation_p.T415M					clustered mitochondria (cluA/CLU1) homolog																		GGACTGGGCCGTGACCCGGTA	0.657000													9	14					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150761	247150761	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:247150761G>A	ENST00000339986.7	-	4	1203	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	352					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCACATCGGAAGGTTTTCT	0.388000													4	14					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130475993	130475993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:130475993G>A	ENST00000368134.2	-	11	1608	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SAMD3_ENST00000437477.2_Missense_Mutation_p.P334S|SAMD3_ENST00000457563.2_Missense_Mutation_p.P358S|SAMD3_ENST00000439090.2_Missense_Mutation_p.P334S	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	334										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCAAGAAAGGAAACAGTTTA	0.323000													11	24					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304351	11304351	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:11304351G>A	ENST00000432929.2	-	4	765	c.405C>T	c.(403-405)ctC>ctT	p.L135L	KANK2_ENST00000589894.1_Silent_p.L135L|KANK2_ENST00000586659.1_Silent_p.L135L|KANK2_ENST00000589359.1_Silent_p.L135L|KANK2_ENST00000355150.5_Silent_p.L135L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	135										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTGGTCCTCGAGACGGCGAC	0.716000													13	33					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73021967	73021967	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:73021967A>G	ENST00000268057.4	+	10	694	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	BBS4_ENST00000539603.1_Missense_Mutation_p.Y206C|BBS4_ENST00000542334.1_Missense_Mutation_p.Y46C|BBS4_ENST00000395205.2_Missense_Mutation_p.Y226C	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	218	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTCGGCATTTACCAGAAGGCA	0.468000									Bardet-Biedl syndrome				3	80					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487923	63487923	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63487923C>T	ENST00000377819.5	+	3	2103	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	RTN3_ENST00000339997.4_Missense_Mutation_p.S631F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S538F|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	650					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GATGATTCCTCCCCAGAGGAC	0.353000													7	27					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138492	126138492	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:126138492G>A	ENST00000299308.3	+	9	2481	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E337K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	825						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGAAACCAGGAGAGAGCAGT	0.498000													5	33					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856783	53856783	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:53856783T>G	ENST00000458035.1	+	4	2972	c.2855T>G	c.(2854-2856)tTt>tGt	p.F952C	ZNF845_ENST00000595091.1_Missense_Mutation_p.F952C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGCAAGGTTTTTAATCGAAAA	0.343000													10	10					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52960824	52960824	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:52960824C>T	ENST00000549343.1	-	10	1599	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R	KRT74_ENST00000305620.2_Missense_Mutation_p.G507R			Q7RTS7	K2C74_HUMAN	keratin 74	507	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGTCTCCCCCTCGCGCCTCT	0.667000													35	74					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869134	52869134	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:52869134C>T	ENST00000601151.1	+	5	826	c.374C>T	c.(373-375)tCt>tTt	p.S125F	ZNF610_ENST00000321287.8_Missense_Mutation_p.S168F|ZNF610_ENST00000327920.8_Missense_Mutation_p.S168F|ZNF610_ENST00000403906.3_Missense_Mutation_p.S168F	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAAAAATTTCTTCTAGTTTC	0.323000													15	58					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600510	31600510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31600510C>T	ENST00000376033.2	+	16	4294	c.4060C>T	c.(4060-4062)Cct>Tct	p.P1354S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1354S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1354	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGGGAACTCCTGGGGGAGG	0.582000													27	76					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15536360	15536360	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:15536360G>A	ENST00000389282.4	-	7	4085	c.3872C>T	c.(3871-3873)gCc>gTc	p.A1291V	WIZ_ENST00000263381.6_Missense_Mutation_p.A434V|WIZ_ENST00000599910.1_Missense_Mutation_p.A608V|WIZ_ENST00000599686.2_Missense_Mutation_p.A475V|WIZ_ENST00000545156.1_Missense_Mutation_p.A605V			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1291						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGGGCAGGGGCCAGGTCTCC	0.672000													5	32					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270451	84270451	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:84270451G>T	ENST00000568181.1	-	2	761	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	KCNG4_ENST00000308251.4_Missense_Mutation_p.P214Q			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCCGGACTGCGGGTTTTCCAC	0.677000													25	53					7.92952e-12	8.12751e-12	1	1	0
CASP4	837	broad.mit.edu	37	11	104819285	104819285	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:104819285G>A	ENST00000444739.2	-	6	1810	c.900C>T	c.(898-900)ttC>ttT	p.F300F	CASP4_ENST00000393150.3_Silent_p.F244F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	300					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGAAAGCAATGAAGTCCTTCT	0.468000													8	18					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1259342	1259342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:1259342C>T	ENST00000348261.5	+	17	3922	c.3674C>T	c.(3673-3675)cCc>cTc	p.P1225L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P1225L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P1225L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1225					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGGCCCTGCCCAGCGACTTC	0.731000													9	29					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924856	105924856	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:105924856G>A	ENST00000526793.1	-	3	719	c.560C>T	c.(559-561)tCc>tTc	p.S187F	KBTBD3_ENST00000534815.1_Missense_Mutation_p.S108F|KBTBD3_ENST00000531837.1_Missense_Mutation_p.S187F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	183	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GAAATCACTGGATTTAAATAA	0.318000													7	18					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088625	93088625	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:93088625A>T	ENST00000298050.3	+	3	218	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	CCDC67_ENST00000527307.1_Missense_Mutation_p.M40L|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	40										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGAAAGAAAGATGCGGGCTTT	0.403000													8	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066578	9066578	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9066578G>A	ENST00000397910.4	-	3	21071	c.20868C>T	c.(20866-20868)acC>acT	p.T6956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6956T(2)|p.T2589T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAATGCTGGTCTCTCTCA	0.448000													30	98					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96075805	96075805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:96075805C>T	ENST00000515059.1	+	13	1773	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	BMPR1B_ENST00000440890.2_Missense_Mutation_p.S527F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S497F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S497F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	497					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGTCAGAGTCCCAGGACATT	0.458000													8	19					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78666819	78666819	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:78666819C>T	ENST00000436010.2	-	25	5128	c.4131G>A	c.(4129-4131)ctG>ctA	p.L1377L	ROBO1_ENST00000464233.1_Silent_p.L1416L|ROBO1_ENST00000467549.1_Silent_p.L1316L|ROBO1_ENST00000495273.1_Silent_p.L1371L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1416					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGCTACTTTCAGACCAGCAT	0.493000													6	50					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158541472	158541472	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:158541472G>A	ENST00000367102.2	-	11	1292	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SERAC1_ENST00000367104.3_Missense_Mutation_p.P384L|SERAC1_ENST00000367101.1_Missense_Mutation_p.P384L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	384					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGATATTGGGGATGCAGCAC	0.438000													14	70					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32589092	32589092	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:32589092C>A	ENST00000400236.3	-	4	1288	c.83G>T	c.(82-84)tGc>tTc	p.C28F	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.C57F|RFPL2_ENST00000400237.1_Missense_Mutation_p.C118F|RFPL2_ENST00000248983.4_Missense_Mutation_p.C28F	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	118							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCAGACGGCGCATCCACACTC	0.522000													31	47					7.11191e-15	7.36302e-15	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47664722	47664722	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:47664722C>T	ENST00000397708.1	-	24	5291	c.5038_splice	c.e24+1	p.G1679_splice	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Splice_Site_p.G1679_splice|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1679					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCACGTACCCCCCAGGGGTG	0.622000													15	29					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155090268	155090268	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:155090268C>T	ENST00000340368.4	+	2	484	c.273C>T	c.(271-273)ctC>ctT	p.L91L	INSIG1_ENST00000342407.5_Silent_p.L91L|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	91					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTCGTGCTCTTCTCGGTTG	0.647000													4	9					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416042	86416042	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:86416042G>A	ENST00000361669.2	+	3	2033	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G310S|GRM3_ENST00000536043.1_Missense_Mutation_p.G184S|GRM3_ENST00000439827.1_Missense_Mutation_p.G312S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	312					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCATCAAGGGCAGCGAGCA	0.667000													19	50					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38374047	38374047	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:38374047G>A	ENST00000396884.2	-	3	806	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SOX10_ENST00000360880.2_Missense_Mutation_p.P175L|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	175						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCGCCTGGGCTGGTACTT	0.667000													4	5					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516131	195516131	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:195516131G>A	ENST00000463781.3	-	2	2779	c.2320C>T	c.(2320-2322)Cac>Tac	p.H774Y	MUC4_ENST00000475231.1_Missense_Mutation_p.H774Y|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	779					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCAGCCTGGTGGGTATGGGTC	0.612000													12	51					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753570	76753570	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:76753570G>A	ENST00000536229.3	+	1	1889	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	SALL3_ENST00000575389.2_Missense_Mutation_p.G527R|SALL3_ENST00000537592.2_Missense_Mutation_p.G527R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGTCCGTGGGGCTGCAACT	0.741000													4	8					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263740	52263740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:52263740G>A	ENST00000494383.1	-	4	399	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TLR9_ENST00000597542.1_Silent_p.S4S|TWF2_ENST00000305533.5_Silent_p.S273S|TWF2_ENST00000499914.2_Intron			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCTTGCAGCTGGAGTAGAGCA	0.622000													9	45					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708083	146708083	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:146708083G>A	ENST00000392299.2	+	7	2130	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	GRM1_ENST00000355289.4_Missense_Mutation_p.E554K|GRM1_ENST00000492807.2_Missense_Mutation_p.E554K|GRM1_ENST00000361719.2_Missense_Mutation_p.E554K|GRM1_ENST00000282753.1_Missense_Mutation_p.E554K|GRM1_ENST00000507907.1_Missense_Mutation_p.E554K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGAATGAATATGTGCA	0.433000													18	80					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58910672	58910672	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:58910672G>A	ENST00000423743.3	+	7	712	c.453_splice	c.e7-1	p.V152_splice	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Splice_Site_p.V249_splice|KIAA0586_ENST00000261244.5_Splice_Site_p.V196_splice|KIAA0586_ENST00000556134.1_Splice_Site_p.V181_splice	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	196										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTTTAGGTGCAGAGTGA	0.299000													4	3					0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48163047	48163047	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:48163047C>T	ENST00000376909.1	-	4	334	c.272G>A	c.(271-273)aGg>aAg	p.R91K	SSX9_ENST00000407081.2_Missense_Mutation_p.R91K																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ACCCTGATTCCTGTGGTTACG	0.488000													24	66					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147644	6147644	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6147644G>A	ENST00000588304.1	+	3	551	c.105G>A	c.(103-105)caG>caA	p.Q35Q	ACSBG2_ENST00000591403.1_Silent_p.Q85Q|ACSBG2_ENST00000586696.1_Silent_p.Q85Q|ACSBG2_ENST00000252669.5_Silent_p.Q85Q|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	85					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTTCAACCAGTACTATGAGG	0.408000													27	112					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173043	126173043	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:126173043A>T	ENST00000339582.2	-	9	3201	c.2393T>A	c.(2392-2394)aTc>aAc	p.I798N	GRM8_ENST00000358373.3_Missense_Mutation_p.I798N|GRM8_ENST00000444921.2_Missense_Mutation_p.I798N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	798					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAAGATGGGGATGAAAGCTAA	0.393000										HNSCC(24;0.065)			11	32					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607231	84607231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:84607231C>T	ENST00000344803.2	+	4	1893	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.L616F(1)									GGCACGGTCTCTTTTGCCATC	0.473000													13	30					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32953892	32953892	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:32953892C>T	ENST00000399302.2	+	4	1036	c.701C>T	c.(700-702)tCc>tTc	p.S234F	QSER1_ENST00000527788.1_Missense_Mutation_p.S234F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	234	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCATCTTTATCCTGTAGCCCA	0.443000													8	31					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691941	106691941	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:106691941C>T	ENST00000390607.2	-	0	161																											GACCAGGCCTCCCCCAGACTC	0.567000													12	81					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507084	26507084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:26507084G>A	ENST00000361530.6	+	2	338	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.E65K|CNKSR1_ENST00000531191.1_5'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	65	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGGGGTGGAACAGCTCCA	0.657000													22	43					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27282176	27282176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:27282176C>T	ENST00000360131.4	+	11	2152	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P665S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	665					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAATTCCCCCAGCTTTCC	0.577000													13	114					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746540	158746540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158746540C>T	ENST00000339258.1	-	1	885	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTAATGATTTCCTTGTTACGA	0.408000													23	65					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402035	89402035	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:89402035C>T	ENST00000439576.2	+	12	6593	c.6219C>T	c.(6217-6219)gtC>gtT	p.V2073V	ACAN_ENST00000352105.7_Silent_p.V2073V|ACAN_ENST00000561243.1_Silent_p.V2073V|ACAN_ENST00000559004.1_Silent_p.V2073V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2073					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGAAAAGTCTCCACAGCTG	0.527000													3	20					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6227095	6227095	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6227095C>T	ENST00000252674.7	-	5	602	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	147					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTGTCTGCTCCTTCGGGCATT	0.597000			T	MLL	AL								10	43					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663316	71663316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:71663316C>T	ENST00000268485.3	+	2	558	c.514C>T	c.(514-516)Cga>Tga	p.R172*	MARVELD3_ENST00000299952.4_Nonsense_Mutation_p.R172*|MARVELD3_ENST00000567566.1_Nonsense_Mutation_p.R172*|MARVELD3_ENST00000565261.1_Silent_p.D117D|MARVELD3_ENST00000567501.1_5'UTR	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	172						integral to membrane		p.R172R(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CAGGCCTGGACGAGAGGAGGT	0.517000													14	46					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222919965	222919965	+	Silent	SNP	C	C	T	rs140872706	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:222919965C>T	ENST00000445590.2	+	3	344	c.78C>T	c.(76-78)atC>atT	p.I26I	FAM177B_ENST00000360827.2_Silent_p.I26I	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	26										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AAAGGATTATCCATTTTGTTG	0.408000													10	36					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835340	61835340	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:61835340A>C	ENST00000280772.1	-	37	5490	c.5299T>G	c.(5299-5301)Ttt>Gtt	p.F1767V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1767	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGGTAGAAAACACTTTCTCA	0.468000													9	31					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154042090	154042090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:154042090C>T	ENST00000496811.1	-	1	196	c.116G>A	c.(115-117)gGc>gAc	p.G39D	DHX36_ENST00000329463.5_Missense_Mutation_p.G39D|DHX36_ENST00000544526.1_Missense_Mutation_p.G39D|DHX36_ENST00000308361.6_Missense_Mutation_p.G39D	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	39	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCCGCCGCCGCCTCCTCCGGA	0.706000													9	52					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29553544	29553544	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:29553544C>T	ENST00000358273.4	+	18	2476	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	NF1_ENST00000356175.3_Missense_Mutation_p.P698L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	698					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGTGGAACCCTGACACTGAA	0.547000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	68					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136376	32136376	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:32136376C>T	ENST00000312561.4	+	4	2901	c.2487C>T	c.(2485-2487)acC>acT	p.T829T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAACATCAACCAAGATTTTTC	0.368000													12	42					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729900	237729900	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:237729900A>T	ENST00000366574.2	+	28	3565	c.3248A>T	c.(3247-3249)gAa>gTa	p.E1083V	RYR2_ENST00000360064.6_Missense_Mutation_p.E1081V|RYR2_ENST00000542537.1_Missense_Mutation_p.E1067V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1083	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCACCGGGGAAAGGTTCCGA	0.527000													13	46					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111663232	111663232	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:111663232G>A	ENST00000286692.4	-	6	1040	c.423C>T	c.(421-423)atC>atT	p.I141I	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.I141I			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	141					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						GGTAGGAAAGGATGGTCTGAA	0.428000													5	27					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595446	62595446	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62595446G>A	ENST00000450537.1	-	8	1518	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	ZNF512B_ENST00000369888.1_Silent_p.A486A|ZNF512B_ENST00000217130.3_Silent_p.A486A			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCACAGGGGCCGGTGCCT	0.687000													46	97					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680623	128680623	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:128680623C>A	ENST00000344954.6	+	9	1388	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	FLI1_ENST00000525560.1_Missense_Mutation_p.Q174K|FLI1_ENST00000534087.1_Missense_Mutation_p.Q334K|FLI1_ENST00000281428.8_Missense_Mutation_p.Q301K|FLI1_ENST00000429175.2_Missense_Mutation_p.Q367K			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	367					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGGCATTGCCCAGGCTCTGCA	0.493000			T	EWSR1	Ewing sarcoma								4	41					0.00024832	0.000250763	1	1	0
PHC2	1912	broad.mit.edu	37	1	33799745	33799745	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:33799745G>A	ENST00000257118.5	-	9	1757	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	PHC2_ENST00000419414.2_Silent_p.I569I|PHC2_ENST00000485928.1_Intron|PHC2_ENST00000373416.1_Silent_p.I33I|PHC2_ENST00000373422.3_Silent_p.I174I|PHC2_ENST00000431992.1_Silent_p.I539I|PHC2_ENST00000373418.3_Silent_p.I33I	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	568					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATGCGTCAGGATTTGGGGTT	0.512000													8	65					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759811	3759811	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:3759811G>A	ENST00000316757.3	-	2	652	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	151					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATTCTGGGGAGTCAGAATC	0.637000													10	28					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908910	158908910	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158908910G>A	ENST00000368140.1	+	4	697	c.452G>A	c.(451-453)aGg>aAg	p.R151K	PYHIN1_ENST00000368138.3_Missense_Mutation_p.R142K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R151K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R142K|PYHIN1_ENST00000368135.4_Missense_Mutation_p.R151K	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	151					cell cycle	nuclear speck		p.R151M(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGAACCAAAAGGAGTAAGATG	0.458000													11	39					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147645	6147645	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6147645T>A	ENST00000588304.1	+	3	552	c.106T>A	c.(106-108)Tac>Aac	p.Y36N	ACSBG2_ENST00000591403.1_Missense_Mutation_p.Y86N|ACSBG2_ENST00000586696.1_Missense_Mutation_p.Y86N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.Y86N|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	86					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCAACCAGTACTATGAGGC	0.408000													26	109					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186375275	186375275	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:186375275C>T	ENST00000367470.3	+	11	1228	c.992C>T	c.(991-993)aCt>aTt	p.T331I	C1orf27_ENST00000419367.3_Missense_Mutation_p.T322I|C1orf27_ENST00000432021.3_Missense_Mutation_p.T331I|C1orf27_ENST00000287859.6_Missense_Mutation_p.T354I	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	354						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CCTGGATCCACTGTAATGTTG	0.353000													21	45					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52611301	52611301	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:52611301G>A	ENST00000399231.3	-	38	5358	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L	MYO5A_ENST00000356338.6_Silent_p.L1678L|MYO5A_ENST00000399233.2_Silent_p.L1702L|MYO5A_ENST00000358212.6_Silent_p.L1730L|MYO5A_ENST00000553916.1_Silent_p.L1703L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1705	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTTCCGCAGGAGAAGGTTGT	0.537000													4	47					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003978	34003978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:34003978G>A	ENST00000382491.3	-	28	4032	c.3908C>T	c.(3907-3909)cCa>cTa	p.P1303L	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1350L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1389L|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1350	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTTGGGTCTGGGGTGGGAAC	0.438000													8	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598099	179598099	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179598099G>A	ENST00000589042.1	-	54	16145	c.15921C>T	c.(15919-15921)taC>taT	p.Y5307Y	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.Y4990Y|TTN_ENST00000342992.6_Silent_p.Y4063Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4990	Ig-like 33.						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)			AACTTATTCGGTATTTTTTAC	0.468000													12	67					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976810	46976810	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46976810G>A	ENST00000371253.2	-	11	2576	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.I590I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	787			I -> V (in dbSNP:rs1226475).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCCCCACGCGGATGATGGTGG	0.552000													9	33					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828138	1828138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:1828138G>A	ENST00000170168.4	-	2	744	c.650C>T	c.(649-651)cCc>cTc	p.P217L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	217						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCCACTGGGAACGGGGCG	0.677000													14	69					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56819252	56819252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:56819252C>T	ENST00000370754.5	-	1	133	c.134G>A	c.(133-135)gGg>gAg	p.G45E				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGGATGCCTCCCTTTCTGGAG	0.567000													10	15					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40885670	40885670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:40885670C>T	ENST00000291823.2	-	4	1959	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	559						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCTCAGGGTCTGGCCTCTGT	0.617000													5	13					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026387	189026387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:189026387C>T	ENST00000536972.1	-	2	383	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TRIML2_ENST00000512729.1_5'UTR|TRIML2_ENST00000326754.3_5'UTR			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTTTGTGCTCCTGGGACTGG	0.478000													20	99					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110459516	110459516	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:110459516C>T	ENST00000506538.2	+	20	2903	c.2330C>T	c.(2329-2331)cCa>cTa	p.P777L	WDR36_ENST00000513710.2_Missense_Mutation_p.P777L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	777					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AAGAATAAACCAAAGGAACCA	0.328000													4	43					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102069868	102069868	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:102069868G>A	ENST00000369138.1	+	2	650	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	GRIK2_ENST00000358361.3_Missense_Mutation_p.E54K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E54K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E54K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E54K|GRIK2_ENST00000421544.1_Missense_Mutation_p.E54K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E5K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	54					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E54K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGGAGCTGAGGAACTTGCATT	0.348000													5	35					0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398134	40398134	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:40398134G>A	ENST00000354670.4	-	3	388	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	BMF_ENST00000397573.1_Missense_Mutation_p.L52F|BMF_ENST00000431415.3_Missense_Mutation_p.L52F|BMF_ENST00000561360.1_Missense_Mutation_p.L52F|BMF_ENST00000561282.1_Missense_Mutation_p.L52F|BMF_ENST00000220446.4_Missense_Mutation_p.L52F|BMF_ENST00000559701.1_Missense_Mutation_p.L52F|BMF_ENST00000558774.1_Missense_Mutation_p.L52F	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	52					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CAGTGGGTGAGAGGGAAGAGC	0.642000													13	32					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955855	35955855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:35955855C>T	ENST00000274278.3	-	6	1544	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G396E|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G362E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	396						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACCATGTTTCCATGCTGGTC	0.478000													12	59					0	0	1	0	0
C1D	10438	broad.mit.edu	37	2	68274371	68274371	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:68274371G>A	ENST00000355848.3	-	2	119	c.72C>T	c.(70-72)tcC>tcT	p.S24S	C1D_ENST00000410067.3_Silent_p.S24S|C1D_ENST00000407324.1_Silent_p.S63S|C1D_ENST00000409302.1_Silent_p.S24S			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	24	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						CAGCACCAATGGAATTCTCAA	0.338000													6	29					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35996873	35996873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:35996873G>A	ENST00000339686.3	-	8	1230	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	DMKN_ENST00000467637.1_Missense_Mutation_p.P77S|DMKN_ENST00000419602.1_Missense_Mutation_p.P341S|DMKN_ENST00000602781.1_Missense_Mutation_p.P65S|DMKN_ENST00000458071.1_Missense_Mutation_p.P97S|DMKN_ENST00000447113.2_Missense_Mutation_p.P402S|DMKN_ENST00000443640.1_Missense_Mutation_p.P115S|DMKN_ENST00000424570.2_Missense_Mutation_p.P364S|DMKN_ENST00000440396.1_Missense_Mutation_p.P382S|DMKN_ENST00000429837.1_Missense_Mutation_p.P311S|DMKN_ENST00000418261.1_Missense_Mutation_p.P352S|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000392206.2_Missense_Mutation_p.P65S|DMKN_ENST00000488892.1_Missense_Mutation_p.P48S|DMKN_ENST00000402589.2_Missense_Mutation_p.P65S|DMKN_ENST00000414866.2_Missense_Mutation_p.P65S|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000451297.2_Missense_Mutation_p.P335S|DMKN_ENST00000480502.1_Missense_Mutation_p.P65S|DMKN_ENST00000436012.1_Missense_Mutation_p.P48S|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000461300.1_5'UTR	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	352						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AACATCCCAGGAGACGTCTCA	0.527000													23	94					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													14	100					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271876	137271876	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:137271876C>T	ENST00000453654.1	-	13	1031	c.492G>A	c.(490-492)ggG>ggA	p.G164G	DGKI_ENST00000446122.1_Silent_p.G464G|DGKI_ENST00000424189.2_Silent_p.G464G|DGKI_ENST00000288490.5_Silent_p.G464G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	464					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGGTCATTCCCAGTCCCCA	0.577000													18	54					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	878385	878385	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:878385G>T	ENST00000342066.3	+	11	1594	c.1511G>T	c.(1510-1512)gGg>gTg	p.G504V		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	504						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTTTCCCAGGGTCCACACTG	0.682000													5	1					0.014758	0.014794	1	1	0
TNFRSF9	3604	broad.mit.edu	37	1	7980927	7980927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:7980927G>A	ENST00000377507.3	-	8	902	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	246	Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCTTCTGGAAATCGGCAG	0.373000													24	68					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563587	75563587	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:75563587G>A	ENST00000336257.3	-	3	2090	c.696C>T	c.(694-696)tcC>tcT	p.S232S	CHST5_ENST00000541075.1_Silent_p.S238S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	232					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCGCCTCCCGGGAGCGCAGCA	0.706000													22	59					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204511992	204511992	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:204511992C>T	ENST00000367182.3	+	8	754	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000454264.2_Silent_p.L198L|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	198					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTAGCTGGCCTGCCTTGGTG	0.383000			A		"""GBM, bladder, retinoblastoma"""								33	45					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43479502	43479502	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:43479502A>G	ENST00000282041.5	-	27	4710	c.4676T>C	c.(4675-4677)gTt>gCt	p.V1559A	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1559					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCCAGAGCAACCTGCTGAGA	0.458000													12	32					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227972	74227972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:74227972G>A	ENST00000316292.9	-	6	2036	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	EEF1A1_ENST00000331523.2_Missense_Mutation_p.H349Y|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.H349Y	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	349						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGCCTGGATGGTTCAGGATA	0.428000													9	32					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316926	46316926	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:46316926A>G	ENST00000465950.1	-	3	4182	c.2973T>C	c.(2971-2973)agT>agC	p.S991S	SCAF11_ENST00000419565.2_Silent_p.S1306S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Silent_p.S1306S|SCAF11_ENST00000549162.1_Silent_p.S1114S			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1306					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATGAGAAGAACTAGGAATAC	0.373000													8	43					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62209576	62209576	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:62209576C>T	ENST00000261517.5	-	60	8092	c.8019G>A	c.(8017-8019)cgG>cgA	p.R2673R	VPS13C_ENST00000395898.3_Silent_p.R2630R|VPS13C_ENST00000249837.3_Silent_p.R2630R|VPS13C_ENST00000395896.4_Silent_p.R2673R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2673					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGAGAAGATTCCGCAAAGTGA	0.358000													3	37					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100374	72100374	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:72100374G>A	ENST00000355790.4	-	3	644	c.167C>T	c.(166-168)aCc>aTc	p.T56I	LRRC20_ENST00000395010.1_Missense_Mutation_p.T56I|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.T56I|LRRC20_ENST00000395011.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	56										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GTTAGCCAGGGTGATGAGGTG	0.567000													12	22					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519150	129519150	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:129519150G>A	ENST00000276218.2	-	1	361	c.272C>T	c.(271-273)gCc>gTc	p.A91V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	91						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GAGGACAGAGGCAGCTGCGGA	0.587000													21	76					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799018	16799018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:16799018C>T	ENST00000187762.2	+	6	827	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	246						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTACATCTGCCCCGTGCTGTT	0.632000													85	298					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183600831	183600831	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:183600831G>A	ENST00000511685.1	+	8	1462	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	TENM3_ENST00000406950.2_Missense_Mutation_p.E447K					teneurin transmembrane protein 3																		TGACTTCGTGGAGCTCCTGGA	0.537000													18	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398154	179398154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179398154C>T	ENST00000589042.1	-	358	103412	c.103188G>A	c.(103186-103188)tgG>tgA	p.W34396*	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32755*|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W31828*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25331*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25456*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25523*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32755							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)			CATCTTTCTCCCATTTTAATG	0.468000													13	33					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688387	26688387	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:26688387G>C	ENST00000436292.1	-	7	1450	c.1330C>G	c.(1330-1332)Cac>Gac	p.H444D	ZNF683_ENST00000374204.1_Missense_Mutation_p.H424D|ZNF683_ENST00000349618.3_Missense_Mutation_p.H424D|ZNF683_ENST00000403843.1_Missense_Mutation_p.H444D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCCGATGGTGCAGCTTCAGG	0.667000													13	36					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250784	24250784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:24250784G>A	ENST00000256412.4	+	3	437	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	73					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAAAGGTATGAACCTGAAGT	0.289000													5	26					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184105217	184105217	+	Silent	SNP	C	C	T	rs144610754		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:184105217C>T	ENST00000204604.1	+	19	2649	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	CHRD_ENST00000348986.3_Silent_p.P761P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P343P|CHRD_ENST00000450923.1_Silent_p.P801P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	801	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.P801P(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGCACCCCGTTGTGCCCC	0.592000													14	29					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080314	5080314	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5080314C>T	ENST00000321522.2	-	1	543	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCATGTGCTCACAGTAGGTG	0.398000													3	20					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492144	87492144	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:87492144A>T	ENST00000296595.6	-	12	1472	c.1348T>A	c.(1348-1350)Ttt>Att	p.F450I	TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000511218.1_Missense_Mutation_p.F241I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F439I|TMEM161B_ENST00000514135.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	450						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGAGGAGTAAAAATATTTTTT	0.393000													5	28					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128214	30128214	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:30128214G>A	ENST00000449742.2	-	1	497	c.422C>T	c.(421-423)cCc>cTc	p.P141L	TRIM10_ENST00000376704.3_Missense_Mutation_p.P141L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	141						cytoplasm	zinc ion binding			ovary(1)	1						TACCCTATAGGGAGCCGCTGC	0.577000													18	35					0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938900	22938900	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:22938900C>T	ENST00000501897.1	+	0	404					NR_038873.1																						GTGAAAGAATCCCTTCAGGAA	0.478000													4	19					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782433	6782433	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:6782433G>A	ENST00000297436.2	-	2	250	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATGGCAAGTGAAAGCCCTTG	0.493000													11	25					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34485777	34485777	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34485777A>T	ENST00000241052.4	+	10	1410	c.1321A>T	c.(1321-1323)Act>Tct	p.T441S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	441					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGATAACGTTACTCAGGTAAT	0.483000													12	69					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347328	46347328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:46347328C>T	ENST00000245934.7	-	8	1051	c.807G>A	c.(805-807)atG>atA	p.M269I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	269					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGACATGAACATGGGTCTCT	0.567000													19	66					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43274688	43274688	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:43274688G>A	ENST00000422911.1	-	5	737	c.636C>T	c.(634-636)ggC>ggT	p.G212G	PRDM15_ENST00000538201.1_Silent_p.G175G|PRDM15_ENST00000398548.1_Silent_p.G212G|PRDM15_ENST00000269844.3_Silent_p.G541G|PRDM15_ENST00000447207.2_Silent_p.G175G			P57071	PRD15_HUMAN	PR domain containing 15	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGACGCCAGAGCCGGCCTGCT	0.642000													11	62					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446921	92446921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:92446921G>A	ENST00000370389.2	+	11	2552	c.1628G>A	c.(1627-1629)aGa>aAa	p.R543K	BRDT_ENST00000394530.3_Missense_Mutation_p.R570K|BRDT_ENST00000399546.2_Missense_Mutation_p.R616K|BRDT_ENST00000402388.1_Missense_Mutation_p.R616K|BRDT_ENST00000362005.3_Missense_Mutation_p.R616K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTAAATTCTAGAAAACGTCAA	0.353000													3	24					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800642	84800642	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:84800642G>A	ENST00000389394.3	+	12	1992	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E619K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E619K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTACCTTTGAAAAGTTCCA	0.343000													8	57					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44691374	44691374	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:44691374T>G	ENST00000281543.5	+	10	1344	c.1150T>G	c.(1150-1152)Tcc>Gcc	p.S384A	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	384					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAAATGATTCCAGTGTGAC	0.398000													16	46					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248023993	248023993	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:248023993G>A	ENST00000366481.3	+	2	543	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	165						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAACGTGGGGAAAAAGACTG	0.478000													7	25					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878756	5878756	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5878756C>T	ENST00000537935.1	-	1	208	c.177G>A	c.(175-177)caG>caA	p.Q59Q	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACTCTGCTCAGTCT	0.468000													19	56					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62370125	62370125	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62370125T>G	ENST00000309546.3	+	6	847	c.760T>G	c.(760-762)Tat>Gat	p.Y254D	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAAAACGTGTATGAGAGCAT	0.701000													9	27					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48739252	48739252	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:48739252C>T	ENST00000544117.2	-	4	1032	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZNF641_ENST00000301042.3_Silent_p.L108L|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Silent_p.L94L			Q96N77	ZN641_HUMAN	zinc finger protein 641	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGATGGTTACCAGGCCCTGAA	0.458000													8	35					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911260	202911260	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:202911260C>A	ENST00000340990.5	-	7	1190	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G298C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	298					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCATCTGGCCCACTGTGGTG	0.532000													5	51					1.024e-07	1.04306e-07	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926252	67926252	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67926252G>A	ENST00000304363.4	-	11	1914	c.1561C>T	c.(1561-1563)Cct>Tct	p.P521S		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCTCACAGGATTCTGTCTG	0.552000													12	71					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349046	150349046	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:150349046G>A	ENST00000218316.3	+	2	1060	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	331	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.E331K(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGATGCAGGAGGCCCGTAC	0.557000													43	50					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418728	1418728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:1418728G>A	ENST00000446702.2	+	17	2762	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G712E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G640E			Q9UQ52	CNTN6_HUMAN	contactin 6	712	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAGGTGGAGGAAGTCGGTCT	0.403000													12	59					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567174	30567174	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30567174G>A	ENST00000395091.2	-	3	880	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Silent_p.L190L			Q96H86	ZN764_HUMAN	zinc finger protein 764	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TGCTCCACCAGTGTGGAGCGC	0.667000													8	18					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373088	27373088	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:27373088C>G	ENST00000296096.5	+	2	450	c.320C>G	c.(319-321)cCg>cGg	p.P107R		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	107	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCCGTGCCGCCCGACACC	0.692000													26	71					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56958729	56958729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:56958729G>A	ENST00000559237.1	-	15	2502	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	ZNF280D_ENST00000396245.1_Missense_Mutation_p.R324C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.R620C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R607C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATGCCCCGACGATACCTTAGG	0.313000													4	36					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:159505705G>A	ENST00000334857.2	-	1	137	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000													14	87					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:130762727C>T	ENST00000392429.1	+	2	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S387F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S387F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000													7	47					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001789	140001789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140001789C>T	ENST00000371589.4	+	11	1727	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	MAN1B1_ENST00000474902.1_Missense_Mutation_p.L255F|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	552					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GGCCCAGGAGCTCATGGAGAC	0.642000													25	49					0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71493688	71493688	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:71493688C>T	ENST00000316084.6	-	5	599	c.495G>A	c.(493-495)gaG>gaA	p.E165E	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	165					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TCTTGCCAGTCTCCAAATCAA	0.478000													7	2					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343410	72343410	+	Silent	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:72343410G>T	ENST00000299687.5	+	1	435	c.435G>T	c.(433-435)ctG>ctT	p.L145L	ZNF407_ENST00000582337.1_Silent_p.L145L|ZNF407_ENST00000309902.6_Silent_p.L145L|ZNF407_ENST00000577538.1_Silent_p.L145L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGTTTCTCTGAAAACAGACA	0.438000													12	34					1.36491e-13	1.41132e-13	1	1	0
POLQ	10721	broad.mit.edu	37	3	121151191	121151191	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:121151191A>T	ENST00000264233.5	-	30	7861	c.7733T>A	c.(7732-7734)aTa>aAa	p.I2578K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2578					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTGGCGCCTATTTTCACTTT	0.418000								DNA polymerases (catalytic subunits)					10	48					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57860100	57860100	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:57860100G>A	ENST00000228682.2	+	8	931	c.840G>A	c.(838-840)agG>agA	p.R280R	GLI1_ENST00000546141.1_Silent_p.R239R|GLI1_ENST00000543426.1_Silent_p.R152R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGAGCTGAGGCCCTTCAAAG	0.602000													23	93					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882394	167882394	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:167882394C>T	ENST00000265293.4	+	19	3194	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	WWC1_ENST00000521089.1_Missense_Mutation_p.P898S|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	898	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCCGGCCCCATCCCCCAC	0.607000													21	97					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078209	111078209	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:111078209G>A	ENST00000262839.2	-	7	2754	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	612					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCACTACCAGGGAGATGACAT	0.418000													71	102					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133336016	133336016	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:133336016G>A	ENST00000260810.5	-	22	3878	c.3747C>T	c.(3745-3747)caC>caT	p.H1249H		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1249					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCTCTAGGGTGCGGAGCCA	0.468000								Other conserved DNA damage response genes					7	30					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518165	123518165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:123518165G>A	ENST00000422452.2	-	30	6679	c.6616C>T	c.(6616-6618)Cga>Tga	p.R2206*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.R2199*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATGCGGTCTCGGAGGTCATAT	0.418000													19	19					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916089	54916089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:54916089G>A	ENST00000545554.1	+	31	6296	c.6296G>A	c.(6295-6297)aGa>aAa	p.R2099K	UNC13C_ENST00000260323.11_Missense_Mutation_p.R2099K|UNC13C_ENST00000539562.2_Missense_Mutation_p.R20K|UNC13C_ENST00000537900.1_Missense_Mutation_p.R2097K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2099	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACAAGAAGAGAAAACAAGGC	0.408000													11	26					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114531652	114531652	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:114531652G>A	ENST00000357389.3	-	11	1457	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.V338V|GAS6_ENST00000327773.6_Silent_p.V392V|GAS6_ENST00000450766.1_Silent_p.V119V|GAS6_ENST00000418959.3_Silent_p.V93V			Q14393	GAS6_HUMAN	growth arrest-specific 6	435	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TGACCTTGATGACCAGATTCC	0.547000													17	44					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40042035	40042035	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:40042035G>A	ENST00000373233.3	-	35	7237	c.7060C>T	c.(7060-7062)Ccc>Tcc	p.P2354S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2354					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCTTGCTGGGAATGGATTTC	0.592000													8	29					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318529	71318529	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:71318529C>T	ENST00000370932.2	-	3	1321	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.G373E|PTGER3_ENST00000370931.3_3'UTR	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	364					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTTTAATTTCCCCAAAATTC	0.338000													36	106					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620489	59620489	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:59620489G>A	ENST00000257264.3	-	9	1365	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	421					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCATTGCGGACAACGTAA	0.408000													12	100					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	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				9	40					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704986	23704986	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:23704986C>A	ENST00000397312.2	-	4	691	c.417G>T	c.(415-417)aaG>aaT	p.K139N	ELAVL2_ENST00000380117.1_Missense_Mutation_p.K139N|ELAVL2_ENST00000380110.4_Missense_Mutation_p.K168N|ELAVL2_ENST00000223951.6_Missense_Mutation_p.K139N|ELAVL2_ENST00000544538.1_Missense_Mutation_p.K139N	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	139	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTCCAACTCCTTCTGGGTCA	0.423000													23	38					1.10513e-12	1.13414e-12	1	1	0
MTOR	2475	broad.mit.edu	37	1	11317043	11317043	+	Silent	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:11317043G>T	ENST00000361445.4	-	4	527	c.451C>A	c.(451-453)Cga>Aga	p.R151R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	151					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCAGGGCTCGCTTCACCTCA	0.572000													7	16					2.0095e-06	2.0393e-06	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76330135	76330135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:76330135C>T	ENST00000298832.9	+	29	3657	c.3452C>T	c.(3451-3453)gCc>gTc	p.A1151V	TTLL5_ENST00000554510.1_Missense_Mutation_p.A660V|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1166V|TTLL5_ENST00000556893.1_Missense_Mutation_p.A702V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1151					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTCAATTTGCCCTGCAGCAA	0.517000													19	62					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889227	147889227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:147889227G>A	ENST00000360693.3	-	6	1006	c.868C>T	c.(868-870)Cct>Tct	p.P290S	HTR4_ENST00000517929.1_Missense_Mutation_p.P290S|HTR4_ENST00000354217.2_Missense_Mutation_p.P290S|HTR4_ENST00000521735.1_Missense_Mutation_p.P290S|HTR4_ENST00000521530.1_Missense_Mutation_p.P290S|HTR4_ENST00000314512.6_Missense_Mutation_p.P290S|HTR4_ENST00000520514.1_Missense_Mutation_p.P290S|HTR4_ENST00000362016.2_Missense_Mutation_p.P304S|HTR4_ENST00000377888.3_Missense_Mutation_p.P290S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	290					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ACCTGCCCAGGGACAGTGTAG	0.493000													10	29					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1401344	1401344	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:1401344G>A	ENST00000406424.4	-	10	1481	c.621C>T	c.(619-621)ccC>ccT	p.P207P	INPP5K_ENST00000542125.1_Silent_p.P187P|INPP5K_ENST00000320345.6_Silent_p.P207P|INPP5K_ENST00000421807.2_Silent_p.P283P|INPP5K_ENST00000397335.3_Silent_p.P191P	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	283	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TGGGAGTGTCGGGGCCAGCAC	0.612000													4	207					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083882	9083882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9083882G>A	ENST00000397910.4	-	1	8136	c.7933C>T	c.(7933-7935)Ccg>Tcg	p.P2645S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2645	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						GGAGTGTCCGGGAGTAAAGTA	0.488000													6	19					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860648	52860648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:52860648G>A	ENST00000343457.3	-	4	2546	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	847						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCCACATTTGAAAATTCTAA	0.423000													9	34					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085329	5085329	+	Silent	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:5085329G>C	ENST00000399604.4	-	1	2363	c.2223C>G	c.(2221-2223)acC>acG	p.T741T	ZNF594_ENST00000575779.1_Silent_p.T741T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTTGCTGAAGGTTTTCTCAC	0.443000													38	155					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:77398203G>A	ENST00000282849.5	-	5	1272	c.854C>T	c.(853-855)tCa>tTa	p.S285L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	285					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S285*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCCAGCTGATCTTCTGGG	0.483000													8	44					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248218	68248218	+	Silent	SNP	G	G	T	rs138543433	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:68248218G>T	ENST00000347230.4	-	22	4539	c.4401C>A	c.(4399-4401)ccC>ccA	p.P1467P	ZFYVE26_ENST00000555452.1_Silent_p.P1467P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1467					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCCTTCACGGGAAACAGGT	0.502000													6	46					3.59834e-05	3.64271e-05	1	1	0
ADARB2	105	broad.mit.edu	37	10	1230943	1230943	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:1230943G>A	ENST00000381312.1	-	9	2226	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	ADARB2_ENST00000381305.1_Missense_Mutation_p.S36L|ADARB2_ENST00000381310.3_Missense_Mutation_p.S143L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	634	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAAGGGGGGCGACTTCCCCGG	0.682000													15	15					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783716	121783716	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:121783716A>C	ENST00000261819.3	-	4	637	c.516T>G	c.(514-516)gaT>gaG	p.D172E	ANAPC5_ENST00000536366.1_Missense_Mutation_p.D51E|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D172E|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D73E|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D73E	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	172					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATATCAGCATCCTCCACTG	0.413000													4	174					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96772020	96772020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:96772020G>A	ENST00000359933.4	-	31	5532	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1547										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACCACATAGCGAATCACAGGA	0.433000													3	43					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42415028	42415028	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:42415028C>T	ENST00000381668.5	-	37	3631	c.3400G>A	c.(3400-3402)Ggg>Agg	p.G1134R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1119R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1134					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AACGCATACCCATCTGTAGGT	0.423000													4	16					0	0	1	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339753	89339753	+	RNA	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:89339753T>C	ENST00000480492.1	-	0	365																											CAATAGTAAGTTGCAAAATCT	0.522000													20	92					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:56000423C>T	ENST00000313264.4	-	1	314	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413000													13	29					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21231412	21231412	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:21231412G>A	ENST00000602326.1	-	13	2149	c.1566C>T	c.(1564-1566)acC>acT	p.T522T	EIF4G3_ENST00000400422.1_Silent_p.T516T|EIF4G3_ENST00000544689.1_Silent_p.T59T|EIF4G3_ENST00000536266.1_Silent_p.T120T|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Silent_p.T236T|EIF4G3_ENST00000264211.8_Silent_p.T516T|EIF4G3_ENST00000374937.3_Silent_p.T522T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	516					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTGGTTCGGGTCCGATCTT	0.413000													8	64					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932596	73932596	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:73932596C>T	ENST00000476977.1	+	5	2240	c.549C>T	c.(547-549)ccC>ccT	p.P183P	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.P215P|GTF2IRD1_ENST00000265755.3_Silent_p.P183P|GTF2IRD1_ENST00000424337.2_Silent_p.P183P			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	183						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTATGACCCCAAGGCCCTCA	0.682000													5	29					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060312	54060312	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:54060312G>A	ENST00000312233.2	-	3	830	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	88					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGCGGATGATGGAGGTGACGT	0.687000													14	34					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660611	125660611	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:125660611G>A	ENST00000431078.1	+	22	3950	c.3586G>A	c.(3586-3588)Gaa>Aaa	p.E1196K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1196	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACCTTGACGGAATCCAGCTG	0.547000													4	10					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398498	10398498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10398498C>T	ENST00000340992.4	+	2	643	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	ICAM4_ENST00000380770.3_Silent_p.P227P|ICAM4_ENST00000393717.2_Silent_p.P227P|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCGGCACCCATTACACTGA	0.637000													23	99					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299604	112299604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:112299604G>A	ENST00000492406.1	+	6	923	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	214						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GACTTTTCCTGAAGCTAAATG	0.423000													4	40					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:165218847G>A	ENST00000342310.3	-	4	676	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_ENST00000367893.4_Silent_p.F98F|LMX1A_ENST00000294816.2_Silent_p.F98F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000													4	18					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240381	21240381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:21240381C>T	ENST00000261560.5	+	5	1448	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAAAAGAATTCATACTGGAGA	0.353000													8	30					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45658338	45658338	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:45658338G>A	ENST00000396659.3	-	6	1223	c.884C>T	c.(883-885)tCc>tTc	p.S295F	GATM_ENST00000558336.1_Missense_Mutation_p.S295F	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	295					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATCTTTAAAGGAGATGATATG	0.433000													6	45					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746388	121746388	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:121746388G>A	ENST00000261819.3	-	17	2284	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.Y708Y|ANAPC5_ENST00000441917.2_Silent_p.Y609Y|ANAPC5_ENST00000535482.1_Silent_p.Y387Y|ANAPC5_ENST00000344395.4_Silent_p.Y609Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	721					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGGGTATGGTAGAGTCTGG	0.542000													19	69					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097313	144097313	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:144097313G>A	ENST00000467773.1	-	5	936	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S	NOBOX_ENST00000483238.1_Missense_Mutation_p.P313S|NOBOX_ENST00000223140.5_Missense_Mutation_p.P228S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	313					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATGCGCTGGGGGGTCACCCCC	0.572000													17	52					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196973942	196973942	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:196973942T>G	ENST00000367414.5	+	9	1610	c.1554T>G	c.(1552-1554)aaT>aaG	p.N518K	CFHR5_ENST00000256785.4_Missense_Mutation_p.N494K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	494	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CATGCAGAAATAAACAGTGGT	0.388000													18	41					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788274	42788274	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:42788274C>T	ENST00000372980.3	-	2	2025	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	385	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGCAATCTCGGCCTTCTGG	0.682000													9	16					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	853268	853268	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:853268C>T	ENST00000590230.1	+	4	372	c.231C>T	c.(229-231)gtC>gtT	p.V77V	ELANE_ENST00000263621.1_Silent_p.V77V			P08246	ELNE_HUMAN	elastase, neutrophil expressed	77	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCAGAAACGTCCGCGCGGTGC	0.741000													5	12					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238178	126238178	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:126238178C>T	ENST00000394329.3	+	1	625	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTGGTGTCCAAGGGCGGAC	0.642000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062969	55062969	+	RNA	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:55062969T>A	ENST00000526016.1	-	0	668					NR_038174.2																						TATGGCACATTTTCTTCAGAT	0.443000													9	24					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651504	84651504	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:84651504G>T	ENST00000286744.5	+	21	3348	c.3124G>T	c.(3124-3126)Gac>Tac	p.D1042Y	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1042Y	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1042						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)			TAACAAAAATGACCTTTATCT	0.473000													8	38					0.00621372	0.00624414	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43984263	43984263	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:43984263G>A	ENST00000282406.4	+	26	3911	c.3801G>A	c.(3799-3801)gaG>gaA	p.E1267E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1267	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTAGGTAGAGATTGGAGATT	0.303000													5	33					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463611	10463611	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10463611G>A	ENST00000525621.1	-	22	3672	c.3191C>T	c.(3190-3192)cCc>cTc	p.P1064L	TYK2_ENST00000524462.1_Missense_Mutation_p.P879L|TYK2_ENST00000264818.6_Missense_Mutation_p.P1064L|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1064	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGAACACGGGGCTGTCCCC	0.632000													4	53					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175893	45175893	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:45175893C>T	ENST00000358777.4	+	2	561	c.81C>T	c.(79-81)ctC>ctT	p.L27L	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.L27L|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	27						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TCTGGATGCTCCAAGGCTCCC	0.562000													14	44					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:63174573G>A	ENST00000322893.7	-	11	2888	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000													18	55					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:196887394G>A	ENST00000367416.2	+	10	1729	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G285E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTTAAAAGGAAAAAGTGAC	0.279000													15	48					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008254	29008254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:29008254G>A	ENST00000282397.4	-	5	868	c.617C>T	c.(616-618)aCc>aTc	p.T206I	FLT1_ENST00000541932.1_Missense_Mutation_p.T206I|FLT1_ENST00000539099.1_Missense_Mutation_p.T206I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	206	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T206N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGCTTCACAGGTCAGAAGCCC	0.418000													9	41					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994865	140994865	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:140994865C>T	ENST00000285879.4	+	4	1961	c.1675C>T	c.(1675-1677)Cta>Tta	p.L559L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	559							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTCCCTATCTCCTCA	0.577000										HNSCC(15;0.026)			129	110					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782218	62782218	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62782218C>T	ENST00000336232.2	-	2	348	c.213G>A	c.(211-213)gaG>gaA	p.E71E	SLC22A8_ENST00000430500.2_Silent_p.E71E|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.E71E|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	71					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGGCACCTCTCAGGCTTCC	0.627000													32	155					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518166	123518166	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:123518166G>A	ENST00000422452.2	-	30	6678	c.6615C>T	c.(6613-6615)ctC>ctT	p.L2205L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2198L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGCGGTCTCGGAGGTCATATC	0.413000													18	18					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848836	245848836	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:245848836G>A	ENST00000366518.4	+	9	1512	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	KIF26B_ENST00000407071.2_Missense_Mutation_p.D851N			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	851	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCTGTCCAGCGACCCCGACTA	0.652000													10	44					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853752	51853752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:51853752G>A	ENST00000453097.2	+	8	1090	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC4A8_ENST00000535225.2_Missense_Mutation_p.M238I|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M318I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M238I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M238I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	291					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCATTTCATGAAAAAAATTC	0.413000													22	93					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145631425	145631425	+	Silent	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:145631425C>A	ENST00000265271.5	+	9	1597	c.1431C>A	c.(1429-1431)acC>acA	p.T477T	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	477					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCCTACCCCTCTGGTTC	0.547000													52	128					2.76378e-25	2.87224e-25	1	1	0
ABCD2	225	broad.mit.edu	37	12	39980086	39980086	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:39980086G>A	ENST00000308666.3	-	7	1795	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	554	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						AGACTTCCAAGAGACATATAT	0.393000													9	36					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148861632	148861632	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:148861632C>T	ENST00000367467.3	+	17	2624	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	717							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGCCAGGGCCTGAGTGGATG	0.527000													4	14					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180625	226180625	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226180625C>T	ENST00000272091.7	-	3	335	c.317G>A	c.(316-318)gGa>gAa	p.G106E	SDE2_ENST00000366817.1_Intron	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TAGTCTCCTTCCACTGAGATC	0.418000													14	34					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													5	30					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38758136	38758136	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:38758136A>G	ENST00000359357.3	+	18	2339	c.2085A>G	c.(2083-2085)caA>caG	p.Q695Q	DNAH8_ENST00000449981.2_Silent_p.Q912Q|DNAH8_ENST00000441566.1_Silent_p.Q695Q					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						GCTTCTTTCAAGAAGTCGAAT	0.338000													17	46					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94275871	94275871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:94275871C>T	ENST00000515393.1	-	5	1089	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	MCTP1_ENST00000429576.2_Missense_Mutation_p.D143N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D143N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D143N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	364					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAATGAGGATCTTTCAGAGTA	0.383000													21	65					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56657115	56657115	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:56657115A>G	ENST00000431842.2	-	17	4576	c.3652T>C	c.(3652-3654)Tta>Cta	p.L1218L	FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000355628.5_Silent_p.L1594L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1655										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CCCCAACTTAAGGGAGGTGGA	0.353000													5	42					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050087	238050087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:238050087G>A	ENST00000366570.4	-	6	981	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	275	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R275G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCTGTCACGAGTGACAGAG	0.488000													32	45					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162268	41162268	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:41162268G>A	ENST00000483722.1	-	3	865	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	227					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTGGAGATGGATTCTGGGCC	0.627000													5	17					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687550	61687550	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:61687550C>T	ENST00000577390.1	-	12	3316	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	788					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E788K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTAGAGTTCGCCCAGTCTC	0.473000													22	51					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124094997	124094997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:124094997C>T	ENST00000287380.1	+	3	370	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	TBC1D31_ENST00000309336.3_Missense_Mutation_p.R94C|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000522420.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R94C|TBC1D31_ENST00000521676.1_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CTTTAATCTTCGTAGGAAATC	0.343000													7	31					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36275968	36275968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:36275968G>A	ENST00000007510.4	+	17	1825	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E561K|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.E425K			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	561					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GACGCCCACGGAGCCCACAAC	0.726000													3	6					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399019	132399019	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:132399019G>A	ENST00000331898.7	-	3	1040	c.462C>T	c.(460-462)acC>acT	p.T154T	OPCML_ENST00000541867.1_Silent_p.T154T|OPCML_ENST00000374778.4_Silent_p.T113T|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.T147T	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	154	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.T147T(1)|p.T154T(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACACAGCAGGGTCACACTGC	0.473000													5	35					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476006	32476006	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:32476006G>A	ENST00000404025.2	-	5	1415	c.927C>T	c.(925-927)atC>atT	p.I309I	NLRC4_ENST00000360906.5_Silent_p.I309I|NLRC4_ENST00000402280.1_Silent_p.I309I|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	309	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCACTTCTCGGATGAGAGCCT	0.532000													17	41					0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968607	72968607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:72968607C>T	ENST00000311755.3	-	3	632	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K						HIG1 hypoxia inducible domain family, member 2B																		AGGAACTTTTCCTTGAAACCC	0.577000													3	15					0	0	1	0	0
PMCH	5367	broad.mit.edu	37	12	102590799	102590799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:102590799C>T	ENST00000329406.4	-	2	474	c.400G>A	c.(400-402)Gat>Aat	p.D134N	PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000535811.1_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	134					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTTTCTTCATCCCCAATTTCT	0.363000													5	31					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541273	55541273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:55541273C>T	ENST00000220676.1	+	4	4979	c.4831C>T	c.(4831-4833)Ccc>Tcc	p.P1611S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1611					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTGATGATCCCAATGACAG	0.383000													21	53					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46884198	46884198	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:46884198G>A	ENST00000378623.1	-	37	5586	c.5344C>T	c.(5344-5346)Ccc>Tcc	p.P1782S	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1782					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTGGTTTGGGGATTGCTTCA	0.443000													7	72					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770194	35770194	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:35770194G>A	ENST00000540320.1	+	31	5655	c.5121G>A	c.(5119-5121)ttG>ttA	p.L1707L	NBEA_ENST00000379939.2_Silent_p.L1704L|NBEA_ENST00000310336.4_Silent_p.L1707L|NBEA_ENST00000400445.3_Silent_p.L1707L			Q8NFP9	NBEA_HUMAN	neurobeachin	1707						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATCCACTTTGTCATCCGAAG	0.433000													6	38					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857733	90857733	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:90857733G>A	ENST00000394980.1	+	7	3221	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	MMRN1_ENST00000508372.1_Missense_Mutation_p.E710K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E968K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	968					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAATTTGTGGAACCAATAAT	0.378000													9	33					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718148	117718148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:117718148G>A	ENST00000368508.3	-	7	907	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.Q246*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	237	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTAATTTTTGATTTTTGCTG	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								15	72					0	0	1	0	0
APRT	353	broad.mit.edu	37	16	88876198	88876198	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:88876198G>A	ENST00000378364.3	-	5	495	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	APRT_ENST00000563655.1_Silent_p.L124L|APRT_ENST00000426324.2_Intron	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	151					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	ACGCACTCCAGGACCTCAGCC	0.632000													5	44					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54312879	54312879	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:54312879C>T	ENST00000324134.6	-	3	2202	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	NLRP12_ENST00000391775.3_Silent_p.A678A|NLRP12_ENST00000391773.1_Silent_p.A678A|NLRP12_ENST00000354278.3_Silent_p.A678A|NLRP12_ENST00000391772.1_Silent_p.A678A|NLRP12_ENST00000535162.1_Silent_p.A678A|NLRP12_ENST00000351894.4_Silent_p.A678A|NLRP12_ENST00000345770.5_Silent_p.A678A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	678					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGAGCACCTCGCGCGGTCTT	0.582000													3	32					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672472	198672472	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:198672472G>A	ENST00000367376.2	+	7	794	c.623G>A	c.(622-624)gGa>gAa	p.G208E	PTPRC_ENST00000348564.6_Missense_Mutation_p.G49E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G210E|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.G160E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G47E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	208					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCCCTTCTGGAAGCGCTGTC	0.438000													34	126					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611958	44611958	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:44611958C>T	ENST00000273320.3	+	6	1785	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	ZKSCAN7_ENST00000426540.1_Silent_p.S452S|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GGCACAGCTCCCATCTCATTC	0.478000													9	16					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52905928	52905928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:52905928G>A	ENST00000281741.4	-	20	2559	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	730					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTACTGATATGATTTTCTAGT	0.333000													8	17					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156471	2156471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:2156471C>T	ENST00000262304.4	-	18	7625	c.7417G>A	c.(7417-7419)Ggg>Agg	p.G2473R	PKD1_ENST00000423118.1_Missense_Mutation_p.G2473R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2473	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGAGCCCCCCAGCGGCGGG	0.706000													5	14					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226829796	226829796	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226829796G>A	ENST00000429204.1	-	5	2604	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	ITPKB_ENST00000272117.3_Silent_p.A759A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	759							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTCTTCCGGGCCTTCGTGA	0.647000													67	121					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828960	23828960	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:23828960C>T	ENST00000216733.3	-	4	1334	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.G150R	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	243	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCGCCCTCCCCGTCTGCCAGC	0.647000													8	74					0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153290	168153290	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:168153290G>A	ENST00000367833.2	+	2	400	c.255G>A	c.(253-255)gtG>gtA	p.V85V	TIPRL_ENST00000367830.3_Silent_p.V85V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	85					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGCTTAAAGTGGCCTGTGCTG	0.383000													6	39					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720848	140720848	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140720848C>T	ENST00000394576.2	+	1	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATTTTCCCCCAGCCCA	0.552000													47	79					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929481	4929481	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:4929481G>A	ENST00000359350.4	+	1	882	c.882G>A	c.(880-882)aaG>aaA	p.K294K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTGTAAAGACTCGACAAA	0.408000													13	75					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478000													25	40					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986926	118986926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:118986926C>T	ENST00000336702.3	+	14	2443	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	694						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTTCAAATCCAAACCCAAG	0.577000													12	17					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480448	73480448	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:73480448G>A	ENST00000523207.1	+	2	1067	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	160					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGACTATGCGAGAGCGAGAA	0.463000													8	82					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599791	57599791	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:57599791G>C	ENST00000217133.1	+	4	1578	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAAGATGAAGAGGTCACGGA	0.443000													5	57					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69045040	69045040	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:69045040A>C	ENST00000295381.3	+	8	1333	c.914A>C	c.(913-915)aAc>aCc	p.N305T	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N266T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N298T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N299T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N306T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.N299T|ARHGAP25_ENST00000479844.1_5'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	305	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGTGCTGTTAACAAGATGAGT	0.498000													3	18					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628324	33628324	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:33628324G>A	ENST00000380099.3	+	2	1248	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.E107K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	414	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATTTATTGTGGAAAATGGCTG	0.408000													26	116					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123937	12123937	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:12123937C>T	ENST00000379388.2	+	4	4241	c.3909C>T	c.(3907-3909)tcC>tcT	p.S1303S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1303					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCACTCTCTCCAGGAGTCTAA	0.453000													19	33					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67767143	67767143	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67767143C>T	ENST00000227471.2	-	4	479	c.400G>A	c.(400-402)Gga>Aga	p.G134R	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	134					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CACTTCGTTCCAAAAAACCTG	0.602000													4	10					0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74917117	74917117	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:74917117C>T	ENST00000284818.2	+	2	290	c.199C>T	c.(199-201)Cca>Tca	p.P67S	LY96_ENST00000518893.1_Intron	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	67					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTTCTACATTCCAAGTAAGTT	0.269000													11	22					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027169	205027169	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:205027169G>A	ENST00000331830.4	+	3	475	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	64	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCGCGCCCGGGCCAGCCCT	0.642000													9	21					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117307056	117307056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:117307056G>A	ENST00000003084.6	+	27	4469	c.4337G>A	c.(4336-4338)aGg>aAg	p.R1446K	CFTR_ENST00000454343.1_Missense_Mutation_p.R1385K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1446					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCCTCCGACAGGGTGAAGCTC	0.532000									Cystic Fibrosis				7	28					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257381	16257381	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:16257381A>T	ENST00000375759.3	+	11	4850	c.4646A>T	c.(4645-4647)aAa>aTa	p.K1549I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1549					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTAGAGAGAAAAGAGGAAGAT	0.418000													4	36					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620490	59620490	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:59620490G>A	ENST00000257264.3	-	9	1364	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	420					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATTGCGGACAACGTAAC	0.413000													12	100					0	0	1	0	0
BOLA3	388962	broad.mit.edu	37	2	74362670	74362670	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:74362670G>A	ENST00000295326.4	-	3	315	c.285C>T	c.(283-285)ttC>ttT	p.F95F	BOLA3_ENST00000327428.5_3'UTR	NM_001035505.1	NP_001030582.1	Q53S33	BOLA3_HUMAN	bolA family member 3	0						extracellular region				large_intestine(1)|lung(1)	2						TGATGTCAGTGAAGTTCATCC	0.373000													5	52					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180897640	180897640	+	Missense_Mutation	SNP	G	G	A	rs111709771		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:180897640G>A	ENST00000367588.4	+	4	1191	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	KIAA1614_ENST00000367587.1_5'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	379										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAGCGTGCCCGCATGAAGGCC	0.687000													4	119					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638719	2638719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:2638719C>T	ENST00000329276.5	+	12	2080	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	522	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GAGTAGCGATCTTGAAGAGAC	0.483000													11	23					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040226	128040226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:128040226G>A	ENST00000338791.6	-	9	1147	c.797C>T	c.(796-798)cCa>cTa	p.P266L	IMPDH1_ENST00000378717.4_Missense_Mutation_p.P197L|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P256L|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P230L|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P156L|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P233L|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P176L|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P180L|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P156L	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	181					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTCAATCCTTGGCGTCATCAC	0.562000													34	92					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191051	6191051	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:6191051G>A	ENST00000530810.1	-	1	587	c.506C>T	c.(505-507)cCc>cTc	p.P169L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCAGAAGGGCAGCCGCTT	0.502000													4	24					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212530049	212530049	+	Splice_Site	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:212530049C>A	ENST00000342788.4	-	15	2180	c.1871_splice	c.e15+1	p.G624_splice	ERBB4_ENST00000436443.1_Splice_Site_p.G624_splice|ERBB4_ENST00000402597.1_Splice_Site_p.G624_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	624	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATGCTTACCCTTGGGTGCAG	0.463000										TSP Lung(8;0.080)			8	32					0.000274275	0.000276634	1	1	0
HERC1	8925	broad.mit.edu	37	15	63991031	63991031	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:63991031C>G	ENST00000443617.2	-	26	4888	c.4801G>C	c.(4801-4803)Gga>Cga	p.G1601R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1601					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCACATCTCCACTCACAAAG	0.448000													4	22					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270452	84270452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:84270452G>A	ENST00000568181.1	-	2	760	c.640C>T	c.(640-642)Ccg>Tcg	p.P214S	KCNG4_ENST00000308251.4_Missense_Mutation_p.P214S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCGGACTGCGGGTTTTCCACC	0.677000													25	52					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52416749	52416749	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:52416749T>G	ENST00000261837.7	-	12	1162	c.1097A>C	c.(1096-1098)cAt>cCt	p.H366P	GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Missense_Mutation_p.H254P|GNB5_ENST00000358784.7_Missense_Mutation_p.H324P	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	366						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCGGTTTTCATGTCCAAACAG	0.502000													20	35					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46305285	46305285	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:46305285G>A	ENST00000359930.4	-	10	2184	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	SULF2_ENST00000484875.1_Silent_p.L445L|SULF2_ENST00000467815.1_Silent_p.L445L|SULF2_ENST00000361612.4_Silent_p.L445L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	445					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGCTGACACAGGTCCTTCACA	0.602000													3	5					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476005	32476005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:32476005G>A	ENST00000404025.2	-	5	1416	c.928C>T	c.(928-930)Cga>Tga	p.R310*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R310*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R310*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	310	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGCACTTCTCGGATGAGAGCC	0.532000													17	41					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693277	45693277	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:45693277G>A	ENST00000310806.4	-	11	2971	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	838					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCTTTGACGGAAGGTCTAGC	0.358000													15	32					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150844576	150844576	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:150844576G>A	ENST00000370357.4	+	16	2528	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	761						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCAGATTGATGCCTGCAG	0.552000													19	21					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53432307	53432307	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:53432307A>G	ENST00000549216.1	-	2	414	c.344T>C	c.(343-345)aTc>aCc	p.I115T	ZNF816_ENST00000434371.2_Missense_Mutation_p.I184T|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.I184T	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGCATTGATGATAGACTTCTC	0.373000													18	72					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198152	30198152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30198152G>A	ENST00000219150.5	+	4	642	c.337G>A	c.(337-339)Gat>Aat	p.D113N	CORO1A_ENST00000565497.1_Missense_Mutation_p.D113N|CORO1A_ENST00000570045.1_Missense_Mutation_p.D113N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	113					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGAGATCCCAGATGGGGGCCT	0.652000													6	45					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176622896	176622896	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:176622896T>A	ENST00000280187.7	-	3	105	c.60A>T	c.(58-60)aaA>aaT	p.K20N	GPM6A_ENST00000506894.1_Missense_Mutation_p.K9N|GPM6A_ENST00000515090.1_Missense_Mutation_p.K13N|GPM6A_ENST00000393658.2_Missense_Mutation_p.K20N	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	20						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCCCCAGGCATTTGATACAGC	0.433000													10	51					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891161	44891161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:44891161G>A	ENST00000330997.4	-	4	1310	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q423*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q416*	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CAGTGGACTTGAAGAACGGAG	0.493000													17	36					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862783	84862783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:84862783G>A	ENST00000403245.3	-	23	3224	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.A961V	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1037					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GATCTGATGGGCTTCCTTGAT	0.403000													7	26					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186043930	186043930	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:186043930A>C	ENST00000271588.4	+	53	8426	c.8197A>C	c.(8197-8199)Aag>Cag	p.K2733Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K2733Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2733	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTTCAAATAAAGGAGGCTCA	0.363000													20	33					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096334	1096334	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:1096334C>T	ENST00000441003.2	+	34	6386	c.6359C>T	c.(6358-6360)aCg>aTg	p.T2120M	MUC2_ENST00000361558.6_Missense_Mutation_p.T258M|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4482						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCTACTGCACGGGCTGGGGC	0.662000													6	25					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575445	136575445	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:136575445G>A	ENST00000264162.2	-	6	1183	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	391	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCTCCTGTGGAGGCACCCC	0.597000													27	60					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7228266	7228266	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7228266C>T	ENST00000399464.2	-	9	1680	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	NEURL4_ENST00000570460.1_Silent_p.L533L|NEURL4_ENST00000315614.7_Silent_p.L555L	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGCTGCTCAGCACCACGC	0.572000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	106					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750624	140750624	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140750624C>T	ENST00000576222.1	+	1	794	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCCCTCCAGAAGCTGTA	0.542000													18	54					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349916	233349916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:233349916C>T	ENST00000304546.1	-	3	1058	c.848G>A	c.(847-849)aGt>aAt	p.S283N	ECEL1_ENST00000409941.1_Missense_Mutation_p.S283N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	283					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACCTTCTCACTGTCCTCATC	0.667000													8	23					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19345796	19345796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:19345796G>A	ENST00000261537.6	+	2	557	c.293G>A	c.(292-294)tGg>tAg	p.W98*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	98					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGCATTCGATGGAAGTGTGCA	0.408000													20	52					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485237	133485237	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:133485237C>T	ENST00000402696.3	+	12	1931	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	TF_ENST00000264998.3_Silent_p.P355P	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGAACATCCCCATGGGCCTGC	0.537000													35	95					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061968	125061968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:125061968G>A	ENST00000522917.1	+	22	3051	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D949N|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	949						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTGGAGGGGATCTCCTTGC	0.532000													14	55					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830533	23830533	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:23830533G>A	ENST00000354639.3	+	22	3123	c.2659G>A	c.(2659-2661)Gac>Aac	p.D887N	STK31_ENST00000355870.3_Missense_Mutation_p.D910N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D887N|STK31_ENST00000433467.2_Missense_Mutation_p.D910N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	910	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCAGGTTCAGACTTATATGC	0.353000													9	26					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6663903	6663903	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:6663903A>G	ENST00000361842.3	+	4	643	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	XAF1_ENST00000438512.1_Missense_Mutation_p.Q135R|XAF1_ENST00000346752.4_Missense_Mutation_p.Q116R|XAF1_ENST00000441631.1_Missense_Mutation_p.Q135R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	135					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CGCAGTGAACAGGCCCAGCTC	0.587000													8	26					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67249754	67249754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:67249754G>A	ENST00000392676.3	-	34	4439	c.4375C>T	c.(4375-4377)Cca>Tca	p.P1459S	ABCA5_ENST00000392677.2_Missense_Mutation_p.P1460S|ABCA5_ENST00000588877.1_Missense_Mutation_p.P1459S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1459	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCTGTAGATGGTTCATCTAGC	0.378000													16	46					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70557416	70557416	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:70557416G>A	ENST00000323786.5	-	1	52	c.31C>T	c.(31-33)Cct>Tct	p.P11S	COG4_ENST00000393612.4_Missense_Mutation_p.P7S|COG4_ENST00000564653.1_Missense_Mutation_p.P11S	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	7	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGCTTCGGAGGCGAATCAAGG	0.647000													10	34					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115842	145115842	+	RNA	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145115842G>T	ENST00000453618.1	+	0	928							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCAGTAGCTGTATTTTTCAT	0.413000													12	183					4.93089e-13	5.07937e-13	1	1	0
COG4	25839	broad.mit.edu	37	16	70557415	70557415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:70557415G>A	ENST00000323786.5	-	1	53	c.32C>T	c.(31-33)cCt>cTt	p.P11L	COG4_ENST00000393612.4_Missense_Mutation_p.P7L|COG4_ENST00000564653.1_Missense_Mutation_p.P11L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	7	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.P11H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAGCTTCGGAGGCGAATCAAG	0.652000													9	34					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653274	3653274	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:3653274C>T	ENST00000356518.2	-	13	1553		c.e13-1		ADAM33_ENST00000350009.2_Splice_Site|ADAM33_ENST00000466620.1_Splice_Site|ADAM33_ENST00000379861.4_Splice_Site	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CGCGGCACTCCTGGGACCAGA	0.701000													8	41					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176309036	176309036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:176309036C>T	ENST00000292432.5	-	16	2237	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	716	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAAGGCGCCCCACTCCATG	0.632000													28	75					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17850625	17850625	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:17850625C>T	ENST00000378814.5	-	8	645	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	KIF13A_ENST00000378816.5_Missense_Mutation_p.E216K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E216K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E216K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E216K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	216	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTGCTTTCTTCGTTCATGTTG	0.448000													7	22					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807634	1807634	+	Silent	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:1807634G>T	ENST00000340107.4	+	13	2065	c.1809G>T	c.(1807-1809)gtG>gtT	p.V603V	FGFR3_ENST00000481110.2_Silent_p.V602V|FGFR3_ENST00000260795.2_Silent_p.V601V|FGFR3_ENST00000440486.2_Silent_p.V601V|FGFR3_ENST00000412135.2_Silent_p.V489V|FGFR3_ENST00000352904.1_Silent_p.V489V	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	601	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTACCAGGTGGCCCGGGGCA	0.701000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				22	68					2.89027e-11	2.95874e-11	1	1	0
MAML3	55534	broad.mit.edu	37	4	140810355	140810355	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:140810355G>A	ENST00000398940.1	-	5	812	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MAML3_ENST00000327122.5_Intron|MAML3_ENST00000509479.2_Intron			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	0					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AATGGAAAAAGAACACTCCAA	0.413000													8	40					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703870	4703870	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:4703870G>A	ENST00000396950.3	-	2	311	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCAACCCAGAAATGGGCTT	0.512000													5	24					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340365	29340365	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:29340365G>A	ENST00000269205.5	-	1	478	c.290C>T	c.(289-291)cCa>cTa	p.P97L	SLC25A52_ENST00000579441.2_Missense_Mutation_p.P87L	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	87					transport	integral to membrane|mitochondrial inner membrane											CTGCATCAATGGGGGAAGGAT	0.478000													22	56					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13383561	13383561	+	Silent	SNP	G	G	A	rs138467259	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:13383561G>A	ENST00000254508.5	-	22	3109	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1009					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATTTGGCAAGGAAGGGCTTCT	0.557000													7	42					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71701973	71701973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:71701973G>A	ENST00000254799.6	-	2	533	c.416C>T	c.(415-417)cCg>cTg	p.P139L	GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.P21L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	139	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TAACTTGGACGGGGCCAATTC	0.438000													14	40					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30974848	30974848	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30974848C>T	ENST00000262519.8	+	5	1298	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GTGAGAAGTTCCAAGGCTCGG	0.572000													34	67					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48032152	48032152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:48032152C>T	ENST00000295461.5	+	3	395	c.329C>T	c.(328-330)tCt>tTt	p.S110F	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	110						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GGTGGACATTCTTACCTGAAG	0.338000													3	14					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457679	202457679	+	Silent	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:202457679A>C	ENST00000406302.3	+	14	2022	c.1869A>C	c.(1867-1869)gtA>gtC	p.V623V	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Silent_p.V623V|PPP1R12B_ENST00000391959.3_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	623					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGACTCCTGTACGGGATGAGG	0.423000													3	7					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853753	122853753	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:122853753G>A	ENST00000264811.5	-	1	859	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TRPC3_ENST00000379645.3_Silent_p.F220F|TRPC3_ENST00000513531.1_Silent_p.F147F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	135					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGTAAGCGTAGAAGTCGTCGT	0.622000													13	31					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	35					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96075806	96075806	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:96075806C>T	ENST00000515059.1	+	13	1774	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	BMPR1B_ENST00000440890.2_Silent_p.S527S|BMPR1B_ENST00000264568.4_Silent_p.S497S|BMPR1B_ENST00000394931.1_Silent_p.S497S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	497					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGTCAGAGTCCCAGGACATTA	0.463000													8	19					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188321	152188321	+	Silent	SNP	A	A	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:152188321A>G	ENST00000368801.2	-	3	5859	c.5784T>C	c.(5782-5784)tcT>tcC	p.S1928S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1928					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACGGGAGCCAGACCCATGCT	0.577000													24	1176					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499676	18499676	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18499676C>T	ENST00000433979.1	+	11	1647	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P511S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P511S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P511S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	511					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTAAATGTACCTAGATGCAC	0.443000													7	50					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655766	48655766	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:48655766G>A	ENST00000352832.5	+	9	2514	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R	CACNA1G_ENST00000510366.1_Silent_p.R714R|CACNA1G_ENST00000507336.1_Silent_p.R714R|CACNA1G_ENST00000510115.1_Silent_p.R714R|CACNA1G_ENST00000515165.1_Silent_p.R714R|CACNA1G_ENST00000505165.1_Silent_p.R714R|CACNA1G_ENST00000507896.1_Silent_p.R714R|CACNA1G_ENST00000514717.1_Silent_p.R714R|CACNA1G_ENST00000507510.2_Silent_p.R714R|CACNA1G_ENST00000513964.1_Silent_p.R714R|CACNA1G_ENST00000507609.1_Silent_p.R714R|CACNA1G_ENST00000514079.1_Silent_p.R714R|CACNA1G_ENST00000503485.1_Silent_p.R714R|CACNA1G_ENST00000513689.2_Silent_p.R714R|CACNA1G_ENST00000512389.1_Silent_p.R714R|CACNA1G_ENST00000359106.5_Silent_p.R714R|CACNA1G_ENST00000515411.1_Silent_p.R714R|CACNA1G_ENST00000358244.5_Silent_p.R714R|CACNA1G_ENST00000502264.1_Silent_p.R714R|CACNA1G_ENST00000360761.4_Silent_p.R714R|CACNA1G_ENST00000429973.2_Silent_p.R714R|CACNA1G_ENST00000354983.4_Silent_p.R714R|CACNA1G_ENST00000514181.1_Silent_p.R714R|CACNA1G_ENST00000442258.2_Silent_p.R714R|CACNA1G_ENST00000416767.4_Silent_p.R714R|CACNA1G_ENST00000515765.1_Silent_p.R714R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	714					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCGGCAACGGAGCCTGGGCC	0.607000													27	61					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760709	93760709	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:93760709G>A	ENST00000334746.5	-	3	964	c.657C>T	c.(655-657)atC>atT	p.I219I	BTBD7_ENST00000298896.3_Silent_p.I219I|BTBD7_ENST00000555525.1_Silent_p.I219I|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	219										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAACAAGGATATCGACAT	0.378000													4	35					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865107	6865107	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:6865107G>A	ENST00000307659.5	+	7	3453	c.2998G>A	c.(2998-3000)Gat>Aat	p.D1000N	KIAA0232_ENST00000425103.1_Missense_Mutation_p.D1000N	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1000							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGAACAGAATGATCAGCCGAA	0.438000													14	29					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023076	64023076	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:64023076C>T	ENST00000540288.1	+	7	688	c.585C>T	c.(583-585)ctC>ctT	p.L195L	PLCB3_ENST00000325234.5_Silent_p.L128L|PLCB3_ENST00000279230.6_Silent_p.L195L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	195					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCTGTGGCCTCAAATTCAACC	0.647000													5	38					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872381	18872381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18872381G>A	ENST00000266505.7	-	5	816	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L48F|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L183F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	185	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TATCCCCAAAGGTCACTTGGT	0.308000													7	22					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	59					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82329938	82329938	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:82329938C>T	ENST00000339284.2	+	2	643	c.213C>T	c.(211-213)ctC>ctT	p.L71L	SH2D4B_ENST00000470604.2_Silent_p.L70L|SH2D4B_ENST00000313455.4_Silent_p.L22L	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	70										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TCCAATGGCTCCTAGGGGCAG	0.512000													19	39					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294201	31294201	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:31294201G>T	ENST00000542188.1	-	27	5066	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	TRPM1_ENST00000256552.6_Missense_Mutation_p.P1568T|TRPM1_ENST00000397795.2_Missense_Mutation_p.P1546T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGAGAGATGGGAATCCCAAA	0.433000													36	90					8.73648e-17	9.05638e-17	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9417752	9417752	+	Missense_Mutation	SNP	G	G	A	rs112585987		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:9417752G>A	ENST00000378501.2	+	26	2696	c.2681G>A	c.(2680-2682)aGa>aAa	p.R894K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R894K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R894K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R906K|PLCB4_ENST00000378493.1_Missense_Mutation_p.R894K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R906K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	894					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						TCTGAGCTCAGACCAACCACC	0.532000													3	27					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67767142	67767142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67767142C>T	ENST00000227471.2	-	4	480	c.401G>A	c.(400-402)gGa>gAa	p.G134E	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	134					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CCACTTCGTTCCAAAAAACCT	0.602000													4	10					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98991178	98991178	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:98991178C>T	ENST00000254898.5	+	6	1254	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	MATN2_ENST00000524308.1_Silent_p.S341S|MATN2_ENST00000521689.1_Silent_p.S341S|MATN2_ENST00000520016.1_Silent_p.S341S|MATN2_ENST00000522025.2_Silent_p.S57S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	341	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGATGGCTCCTACCTTTGCC	0.418000													9	29					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49833813	49833813	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:49833813G>A	ENST00000396822.1	-	2	369	c.12C>T	c.(10-12)tcC>tcT	p.S4S	SNAI2_ENST00000020945.1_Silent_p.S4S			O43623	SNAI2_HUMAN	snail family zinc finger 2	4					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGACCAGGAAGGAGCGCGGCA	0.577000													25	91					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19999087	19999087	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:19999087C>T	ENST00000400230.2	-	19	1510	c.1466_splice	c.e19+1	p.R489_splice	TPTE2_ENST00000382977.4_Splice_Site_p.R489_splice|TPTE2_ENST00000390680.2_Splice_Site_p.R412_splice|TPTE2_ENST00000382978.1_Splice_Site_p.R449_splice|TPTE2_ENST00000255310.6_Splice_Site_p.R412_splice|TPTE2_ENST00000382975.4_Splice_Site_p.R449_splice|TPTE2_ENST00000400103.2_Splice_Site_p.R378_splice|TPTE2_ENST00000457266.2_Splice_Site_p.R378_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	489	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATATTCATACCTGTTATTTTG	0.279000													5	12					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96512941	96512941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:96512941C>T	ENST00000283109.3	-	4	445	c.377G>A	c.(376-378)aGa>aAa	p.R126K	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R126K	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	126							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCTTCCTAGTCTGTGAAGCTT	0.338000													14	30					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423924	35423924	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:35423924C>T	ENST00000229769.2	+	2	834	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	217	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GAAGAGGGTCCCCAAAAGATT	0.542000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	42					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808503	48808503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:48808503G>A	ENST00000316623.5	-	11	1659	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	402	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTGGGGGAGGATATTCTGGT	0.502000													14	77					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942858	52942858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:52942858C>T	ENST00000354452.3	-	10	1392	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TCF4_ENST00000543082.1_Missense_Mutation_p.E219K|TCF4_ENST00000567880.1_Missense_Mutation_p.E201K|TCF4_ENST00000568673.1_Missense_Mutation_p.E237K|TCF4_ENST00000537578.1_Missense_Mutation_p.E237K|TCF4_ENST00000537856.3_Missense_Mutation_p.E131K|TCF4_ENST00000398339.1_Missense_Mutation_p.E363K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000565018.2_Missense_Mutation_p.E261K|TCF4_ENST00000570177.2_Missense_Mutation_p.E131K|TCF4_ENST00000457482.3_Missense_Mutation_p.E101K|TCF4_ENST00000561831.3_Missense_Mutation_p.E101K|TCF4_ENST00000564228.1_Missense_Mutation_p.E190K|TCF4_ENST00000564403.2_Missense_Mutation_p.E267K|TCF4_ENST00000570287.2_Missense_Mutation_p.E101K|TCF4_ENST00000544241.2_Missense_Mutation_p.E190K|TCF4_ENST00000566286.1_Missense_Mutation_p.E259K|TCF4_ENST00000561992.1_Missense_Mutation_p.E131K|TCF4_ENST00000564999.1_Missense_Mutation_p.E261K|TCF4_ENST00000356073.4_Missense_Mutation_p.E261K|TCF4_ENST00000568740.1_Missense_Mutation_p.E236K|TCF4_ENST00000566279.1_Missense_Mutation_p.E201K|TCF4_ENST00000540999.1_Missense_Mutation_p.E237K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	261					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACCAAACGTTCATGTGGATGC	0.488000													29	96					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065708	23065708	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:23065708C>T	ENST00000246006.4	-	1	1269	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	374	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACCGCCCGGCTCATAGCCAA	0.632000													7	29					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688134	132688134	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:132688134G>A	ENST00000328957.8	-	7	1178	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	GALNT9_ENST00000535228.1_Silent_p.A144A|GALNT9_ENST00000541995.1_Silent_p.A27A|GALNT9_ENST00000397325.2_Silent_p.A27A	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	393					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGTTGCGCTTGGCATAGTAGT	0.627000													24	44					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606724	42606724	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:42606724G>A	ENST00000359486.3	-	1	4724	c.4588C>T	c.(4588-4590)Cca>Tca	p.P1530S	TCF20_ENST00000335626.4_Missense_Mutation_p.P1530S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCCCTTTGGAGGGAAACCC	0.527000													23	40					0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814806	92814806	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:92814806C>T	ENST00000378487.2	-	3	287	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E96K	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	96										large_intestine(1)|lung(7)	8						TCCTGTGCTTCCTTCTTCCCA	0.433000													75	193					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181835	120181835	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:120181835G>A	ENST00000328078.1	+	1	374	c.297G>A	c.(295-297)cgG>cgA	p.R99R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	99					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCAGAAGCGGAACCGGGTGC	0.622000													30	27					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854774	88854774	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:88854774C>T	ENST00000537554.1	-	2	3782	c.220G>A	c.(220-222)Gac>Aac	p.D74N	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000468898.1_Missense_Mutation_p.D41N|CNR1_ENST00000369499.2_Missense_Mutation_p.D74N|CNR1_ENST00000428600.2_Missense_Mutation_p.D74N|CNR1_ENST00000535130.1_Missense_Mutation_p.D74N|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369501.2_Missense_Mutation_p.D74N|CNR1_ENST00000549890.1_Missense_Mutation_p.D74N	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	74					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTCACCTGGTCTGCTGGGACT	0.473000													11	25					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19567048	19567048	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19567048G>A	ENST00000438132.3	+	1	312	c.264G>A	c.(262-264)ggG>ggA	p.G88G	C16orf62_ENST00000251143.5_5'UTR|C16orf62_ENST00000417362.2_5'UTR|C16orf62_ENST00000542263.1_Silent_p.G88G|C16orf62_ENST00000538853.1_Silent_p.G88G	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATGTGACTGGGAAGATGGCCG	0.627000													9	34					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207943	4207943	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:4207943C>T	ENST00000600132.1	+	10	1086	c.810C>T	c.(808-810)gcC>gcT	p.A270A	ANKRD24_ENST00000262970.5_Silent_p.A360A|ANKRD24_ENST00000318934.4_Silent_p.A270A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	270										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGAGGCGGCCCAGCGCCCCT	0.627000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623078	61623078	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:61623078G>A	ENST00000583023.1	+	14	2811	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	KCNH6_ENST00000314672.5_Missense_Mutation_p.E898K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E845K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E845K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	934					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACCATCCTCAGAACAGGAACA	0.577000													15	73					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130717162	130717162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:130717162C>T	ENST00000510168.1	+	26	2966	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	ATP2C1_ENST00000328560.8_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000533801.2_Nonsense_Mutation_p.R801*|ATP2C1_ENST00000359644.3_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000393221.4_Nonsense_Mutation_p.R840*|ATP2C1_ENST00000513801.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000422190.2_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000504381.1_Nonsense_Mutation_p.R751*|ATP2C1_ENST00000428331.2_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000504948.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000505330.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000507488.2_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000508532.1_Nonsense_Mutation_p.R806*			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	806					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GATTACACCTCGAGACACAAC	0.358000									Hailey-Hailey disease				12	44					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192177	66192177	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:66192177C>G	ENST00000311034.2	+	7	1992	c.1816C>G	c.(1816-1818)Ccc>Gcc	p.P606A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	606					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCCCTGGTGCCCGAAGGCCT	0.592000													9	110					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009849	101009849	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:101009849G>A	ENST00000264249.3	-	7	1314	c.929C>T	c.(928-930)cCg>cTg	p.P310L	CHST10_ENST00000409701.1_Missense_Mutation_p.P310L|CHST10_ENST00000542617.1_Missense_Mutation_p.P358L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	310					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGTAATGCCCGGAGGGATAGT	0.527000													11	69					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34862940	34862940	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:34862940G>A	ENST00000431794.3	-	17	2028	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	502	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGCGTGTCTGGAGCTGGGCTG	0.622000													12	51					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878583	185878583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:185878583G>A	ENST00000271588.4	+	5	965	c.736G>A	c.(736-738)Gag>Aag	p.E246K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E246K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	246					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCCTGAAAGAGGTCACTGT	0.383000													12	40					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547658	19547658	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19547658C>T	ENST00000396212.2	+	5	1103	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	CCP110_ENST00000381396.5_Missense_Mutation_p.P223S|CCP110_ENST00000396208.2_Missense_Mutation_p.P223S	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	223	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATCCCAGATCCCTATGTAAT	0.398000													22	83					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160260356	160260356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:160260356G>A	ENST00000241704.7	-	32	3770	c.3541C>T	c.(3541-3543)Cca>Tca	p.P1181S	COPA_ENST00000368069.3_Missense_Mutation_p.P1190S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1181					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCTACTGGCTTTCCACGG	0.468000													16	52					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33248017	33248017	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:33248017G>A	ENST00000373477.4	-	9	1938	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	344					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGCTTTGAGGGATCTGGGTAG	0.502000													5	64					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:56515201C>T	ENST00000390649.3	+	2	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	61	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCTTTTCCAGCTACGGG	0.433000													14	54					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24810395	24810395	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:24810395G>A	ENST00000221169.5	-	0	2155							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cagcttctttggtttcctctc	0.403000													14	32					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32139098	32139098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:32139098C>T	ENST00000395499.1	-	2	755	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R59Q|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R59Q|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R59Q|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R59Q|AGPAT1_ENST00000412465.2_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R59Q			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	59					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GTTGCGTCCTCGCACGGCACA	0.562000													19	84					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374755	47374755	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:47374755C>T	ENST00000232766.5	+	5	729	c.709C>T	c.(709-711)Ctt>Ttt	p.L237F	KLHL18_ENST00000455924.2_Missense_Mutation_p.L125F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	237	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCCCCAGTTCCTTTCAGACAG	0.597000													3	27					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64327545	64327545	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:64327545G>A	ENST00000358912.4	-	4	732	c.290C>T	c.(289-291)aCc>aTc	p.T97I	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	97					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						AAACATATCGGTGTTGCTGTC	0.348000													22	60					0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228785	95228785	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:95228785G>A	ENST00000405395.2	+	0	556					NR_036685.1																						CAGCAGTATTGAAGCCCAGCT	0.582000													6	16					0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226411643	226411643	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226411643C>T	ENST00000366810.5	+	1	325	c.261C>T	c.(259-261)cgC>cgT	p.R87R	MIXL1_ENST00000542034.1_Silent_p.R87R			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	87					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CGTCGCAGCGCCGCAAGCGCA	0.776000													3	22					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255270	69255270	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:69255270C>T	ENST00000374552.4	+	8	1229	c.987C>T	c.(985-987)ttC>ttT	p.F329F	EDA_ENST00000524573.1_Silent_p.F324F|EDA_ENST00000374553.2_Silent_p.F327F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	329					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGAAGCCCTTCCTGCAGTGCA	0.547000													4	10					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1145691	1145691	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:1145691C>T	ENST00000335877.6	+	7	959	c.783C>T	c.(781-783)ctC>ctT	p.L261L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Silent_p.L261L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CAGACCATCTCCCCCCGCCGG	0.577000													9	95					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360315	50360315	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50360315C>T	ENST00000391842.1	+	6	812	c.642C>T	c.(640-642)ttC>ttT	p.F214F	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.F182F|PTOV1_ENST00000601675.1_Silent_p.F214F|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.F182F|PTOV1_ENST00000221557.9_Silent_p.F182F|PTOV1_ENST00000599732.1_Silent_p.F214F	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	214	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.F214L(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGAAGATCTTCATGGGCCTCA	0.647000													57	199					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771116	74771116	+	Silent	SNP	T	T	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74771116T>G	ENST00000588460.1	+	11	2954	c.912T>G	c.(910-912)cgT>cgG	p.R304R	MFSD11_ENST00000336509.4_Silent_p.R304R|MFSD11_ENST00000586622.1_Silent_p.R304R|MFSD11_ENST00000355954.3_Silent_p.R252R|MFSD11_ENST00000593181.1_Silent_p.R252R|MFSD11_ENST00000590514.1_Silent_p.R304R|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	304						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						AGAACAATCGTTTTGGTAGAA	0.473000													60	129					0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151166206	151166206	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:151166206C>T	ENST00000394123.3	+	2	170	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	G3BP1_ENST00000356245.3_Silent_p.L9L|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	9					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCCTAGTCCCCTGCTGGTCGG	0.473000													24	54					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831044	61831044	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:61831044G>A	ENST00000280772.1	-	37	9786	c.9595C>T	c.(9595-9597)Cca>Tca	p.P3199S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCGGGAATTGGGCTGGGTTTG	0.483000													15	38					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54649535	54649535	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:54649535C>T	ENST00000406403.1	+	7	2288	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	CNOT3_ENST00000358389.3_Silent_p.L48L|CNOT3_ENST00000221232.5_Silent_p.L229L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	229					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTACGATGACCTGGACCTCGA	0.567000													16	31					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316852	94316852	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:94316852C>T	ENST00000282020.4	+	9	1598	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	GRID2_ENST00000510992.1_Missense_Mutation_p.T352I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	447					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGTGTAGTAACTGTTCTGGTA	0.383000													8	65					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15767060	15767060	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:15767060C>T	ENST00000375949.4	+	3	230	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	68	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCAACTTCGTCCTCACTG	0.592000													6	20					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93511326	93511326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:93511326C>T	ENST00000282020.4	+	2	391	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GRID2_ENST00000510992.1_Missense_Mutation_p.R45C|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	45					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R45C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGAGGTATTTCGCACTGCGGT	0.383000													9	56					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183522121	183522121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:183522121C>T	ENST00000511685.1	+	4	679	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	TENM3_ENST00000406950.2_Missense_Mutation_p.P186S					teneurin transmembrane protein 3																		GCAGCCCTTGCCGCCTTCCCA	0.443000													4	135					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551675	165551675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:165551675C>T	ENST00000375458.2	-	11	2448	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	COBLL1_ENST00000409184.3_Missense_Mutation_p.E781K|COBLL1_ENST00000392717.2_Missense_Mutation_p.E819K|COBLL1_ENST00000342193.4_Missense_Mutation_p.E781K|COBLL1_ENST00000194871.6_Missense_Mutation_p.E848K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	819										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCGATATTTCCAAGGATTTG	0.378000													24	57					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485123	97485123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:97485123C>T	ENST00000376705.2	+	2	1111	c.1087C>T	c.(1087-1089)Ctc>Ttc	p.L363F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	363						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GACACAGTTTCTCTTTGAGAG	0.498000													22	49					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012538	90012538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:90012538C>T	ENST00000405460.2	+	43	9535	c.9439C>T	c.(9439-9441)Cga>Tga	p.R3147*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3147	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGTGTTCGATTCAAGGT	0.328000													7	22					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475940	22475940	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:22475940G>A	ENST00000308511.4	+	17	2401	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	KIAA1967_ENST00000520861.1_Missense_Mutation_p.G393S|KIAA1967_ENST00000389279.3_Missense_Mutation_p.G718S			Q8N163	K1967_HUMAN		718					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACTGGTGTGGCTACTTGCA	0.542000													31	122					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772636	140772636	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140772636T>C	ENST00000371372.1	+	1	396	c.251T>C	c.(250-252)gTc>gCc	p.V84A	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V84A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V84A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V84A|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V84A|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	84					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GACAACGTCGTCCGCAAATAC	0.706000													4	13					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987747	72987747	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:72987747G>A	ENST00000305632.5	-	4	742	c.501C>T	c.(499-501)acC>acT	p.T167T	TBL2_ENST00000452475.1_Silent_p.T167T|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.T131T	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	167										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTCCCGCTTGGTCATCTTGA	0.562000													33	60					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	289909	289909	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:289909G>A	ENST00000419098.1	-	2	49	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTCTGGAGAGAATTCTATGG	0.418000													6	56					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791261	237791261	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:237791261G>A	ENST00000366574.2	+	41	6638	c.6321G>A	c.(6319-6321)acG>acA	p.T2107T	RYR2_ENST00000360064.6_Silent_p.T2105T|RYR2_ENST00000542537.1_Silent_p.T2091T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTACACGATAAATGGTG	0.547000													11	29					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124288315	124288315	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:124288315A>T	ENST00000409039.3	+	16	2393	c.2368A>T	c.(2368-2370)Ata>Tta	p.I790L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	790	Stem (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)		GCTGACATTAATAGAGGCCAT	0.408000													5	33					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27781295	27781295	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:27781295C>T	ENST00000261588.4	+	21	4108	c.4089C>T	c.(4087-4089)ttC>ttT	p.F1363F		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1363										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAATCCTCTTCGTGGACTACC	0.642000													30	123					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099508	142099508	+	RNA	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:142099508G>A	ENST00000390359.3	-	0	332																											GTGTGCGCTGGATCTTCAGAG	0.532000													6	69					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21125066	21125066	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:21125066G>A	ENST00000269228.5	-	12	2359	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S284F	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	602					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCAGTGAAGGAAATGGTCAG	0.318000													9	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764646	82764646	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:82764646G>A	ENST00000423517.2	-	3	2557	c.2220C>T	c.(2218-2220)gtC>gtT	p.V740V	PCLO_ENST00000333891.8_Silent_p.V740V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	686	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCAGATGGGACAGAAGGTT	0.517000													11	39					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485236	133485236	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:133485236C>T	ENST00000402696.3	+	12	1930	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	TF_ENST00000264998.3_Missense_Mutation_p.P355L	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGAACATCCCCATGGGCCTG	0.542000													35	95					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411602	50411602	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50411602A>T	ENST00000596217.1	-	2	3350	c.1463T>A	c.(1462-1464)aTc>aAc	p.I488N	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.I488N|NUP62_ENST00000597029.1_Missense_Mutation_p.I488N|NUP62_ENST00000413454.1_Missense_Mutation_p.I488N|NUP62_ENST00000352066.3_Missense_Mutation_p.I488N|NUP62_ENST00000597723.1_Missense_Mutation_p.I412N|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	488					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTCTGGTCGATCCACTGCAG	0.627000													23	104					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183515287	183515287	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:183515287C>T	ENST00000367537.3	+	18	2701	c.2506C>T	c.(2506-2508)Ccc>Tcc	p.P836S	SMG7_ENST00000347615.2_Missense_Mutation_p.P853S|SMG7_ENST00000515829.2_Missense_Mutation_p.P807S|SMG7_ENST00000507469.1_Missense_Mutation_p.P807S|SMG7_ENST00000508461.1_Missense_Mutation_p.P811S|SMG7_ENST00000456731.2_Missense_Mutation_p.P765S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	853	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAGCCTTTTCCCATGGAGCC	0.448000													27	43					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54880844	54880844	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:54880844C>T	ENST00000333896.5	+	26	6022	c.5637C>T	c.(5635-5637)gcC>gcT	p.A1879A	SPTBN1_ENST00000356805.4_Silent_p.A1892A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1892	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTGGAAGCCTGGAAGTCCC	0.642000													7	48					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7195347	7195347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7195347G>A	ENST00000007699.5	-	3	430	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCTCTTACCTGGTGAACAAAG	0.527000													16	45					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399018	132399018	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:132399018G>A	ENST00000331898.7	-	3	1041	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	OPCML_ENST00000541867.1_Silent_p.L155L|OPCML_ENST00000374778.4_Silent_p.L114L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.L148L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	155	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGACACAGCAGGGTCACACTG	0.473000													5	36					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120774820	120774820	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:120774820A>C	ENST00000378164.2	-	19	2691	c.2393T>G	c.(2392-2394)aTg>aGg	p.M798R	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	798					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCATCAATCATTTCTGCACG	0.328000													5	19					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202739	140202739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140202739C>T	ENST00000529859.1	+	1	1379	c.1379C>T	c.(1378-1380)aCc>aTc	p.T460I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T460I|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T460I	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)			CCCCAGTATACCGTGTTCGTG	0.667000													25	95					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630625	41630625	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:41630625C>T	ENST00000331105.2	+	8	1038	c.964_splice	c.e8-1	p.A322_splice		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	322					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTCTCCAGCCCGCGTGCAGG	0.682000													8	27					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248219	68248219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:68248219G>A	ENST00000347230.4	-	22	4538	c.4400C>T	c.(4399-4401)cCc>cTc	p.P1467L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1467L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1467					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATCCTTCACGGGAAACAGGTA	0.502000													6	46					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607745	141607745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:141607745C>T	ENST00000389484.3	-	29	5836	c.4865G>A	c.(4864-4866)tGg>tAg	p.W1622*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1622					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)		AATATCTGTCCAGTATAAACG	0.353000										TSP Lung(27;0.18)			6	39					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167414821	167414821	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:167414821G>A	ENST00000392750.2	-	5	661	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	PDCD10_ENST00000492396.1_Missense_Mutation_p.R19C|PDCD10_ENST00000473645.2_Missense_Mutation_p.R82C|PDCD10_ENST00000487947.2_Missense_Mutation_p.R82C|PDCD10_ENST00000497056.2_Missense_Mutation_p.R82C|PDCD10_ENST00000471885.1_Missense_Mutation_p.R82C|PDCD10_ENST00000461494.1_Missense_Mutation_p.R82C|PDCD10_ENST00000470131.1_Missense_Mutation_p.R82C	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	82					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCTGCCATACGAAGAAGGGAC	0.348000													20	45					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93117951	93117951	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:93117951C>T	ENST00000216487.7	+	6	716	c.557C>T	c.(556-558)cCt>cTt	p.P186L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	186					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCTGAATCCTCCACAAGAA	0.627000													17	73					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26166122	26166122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:26166122C>T	ENST00000335473.7	+	5	1808	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q520*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q520*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	520						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGGCTGGCTCAGAAGGATGG	0.517000													24	24					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433486	55433486	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:55433486C>A	ENST00000314259.3	+	1	873	c.844C>A	c.(844-846)Ccc>Acc	p.P282T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGTTAAATCCCTTGATCTA	0.458000													16	39					2.48551e-13	2.56679e-13	1	1	0
NAV2	89797	broad.mit.edu	37	11	20112483	20112483	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:20112483G>A	ENST00000396085.1	+	28	5941	c.5580G>A	c.(5578-5580)atG>atA	p.M1860I	NAV2_ENST00000540292.1_Missense_Mutation_p.M1847I|NAV2_ENST00000527559.2_Missense_Mutation_p.M1845I|NAV2_ENST00000533917.1_Missense_Mutation_p.M921I|NAV2_ENST00000311043.8_Missense_Mutation_p.M921I|NAV2_ENST00000360655.4_Missense_Mutation_p.M1793I|NAV2_ENST00000349880.4_Missense_Mutation_p.M1857I|NAV2_ENST00000396087.3_Missense_Mutation_p.M1916I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1916						nucleus	ATP binding|helicase activity	p.M1916I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACAAGGAGATGAAGCTGACGG	0.507000													4	27					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365764	175365764	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:175365764C>T	ENST00000367674.1	-	5	1864	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	TNR_ENST00000263525.2_Missense_Mutation_p.E386K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	386	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGACCTGGCTCCAGCTCCGTG	0.592000													8	40					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012337	124012337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:124012337C>T	ENST00000456829.2	+	16	2163	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	VWA5A_ENST00000360334.4_Silent_p.L399L|VWA5A_ENST00000392748.1_Missense_Mutation_p.P638S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	638										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						TGACCGTCCTCCTTCTGCATC	0.478000													19	50					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47571147	47571147	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:47571147G>A	ENST00000273859.3	+	16	3416	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1049					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCTCCAGGTGATGACCCTTG	0.527000													7	26					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841442	208841442	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:208841442G>A	ENST00000457206.1	-	3	1906	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	PLEKHM3_ENST00000389247.4_Silent_p.S493S|PLEKHM3_ENST00000427836.2_Silent_p.S493S			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	493					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCAGGAAGCTGGTAGTCA	0.453000													7	11					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551724	68551724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:68551724C>T	ENST00000229135.3	-	3	466	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	112					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GAAGTCATCTCGTTTCTTTTT	0.358000													7	69					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57282366	57282366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:57282366C>T	ENST00000288266.3	+	10	997	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	284	PH.|Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGCTGGATACCTTAATGCTAG	0.343000													7	45					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169842890	169842890	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:169842890G>A	ENST00000367772.4	-	5	666	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	SCYL3_ENST00000367770.1_Silent_p.L157L|SCYL3_ENST00000367771.5_Silent_p.L157L|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	157	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACTCCTCAGAAACTAGACA	0.348000													16	28					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167550	18167550	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:18167550C>T	ENST00000323019.4	+	4	1048	c.837C>T	c.(835-837)atC>atT	p.I279I	SMCR7_ENST00000395706.2_Silent_p.I290I|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		279						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GGTGCCTGATCCGGCCCAGCA	0.667000													14	35					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263783	70263783	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:70263783G>A	ENST00000216540.4	-	1	223	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	30					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TGAACACCAGGATGACGCTCA	0.567000													10	58					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776320	40776320	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:40776320G>A	ENST00000381782.2	+	5	1022	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	NSUN7_ENST00000316607.5_Missense_Mutation_p.R176Q|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCAAGATGTCGAATCAAGCAT	0.378000													24	38					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707645	128707645	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:128707645C>T	ENST00000265068.5	-	3	546	c.379G>A	c.(379-381)Gat>Aat	p.D127N	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D15N|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D127N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	127										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGTTCTTCATCGTCCGGCAGA	0.403000													7	18					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9009814	9009814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:9009814G>A	ENST00000299698.7	+	24	3083	c.2903G>A	c.(2902-2904)aGt>aAt	p.S968N	A2ML1_ENST00000539547.1_Missense_Mutation_p.S477N	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	812						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGATGCCCAGTGGCTGTGGC	0.552000													31	76					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6227094	6227094	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6227094C>T	ENST00000252674.7	-	5	603	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	147					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGTGTCTGCTCCTTCGGGCAT	0.602000			T	MLL	AL								10	43					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940566	59940566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:59940566C>T	ENST00000528851.1	-	6	726	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	MS4A6A_ENST00000323961.3_Missense_Mutation_p.E196K|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E224K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E151K|MS4A6A_ENST00000530839.1_Missense_Mutation_p.E196K|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G97E|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E224K|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G161E			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	196						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAGAATTCCAGCAGAGTG	0.498000													31	95					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963009	106963009	+	RNA	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:106963009C>T	ENST00000390621.2	-	0	330																											TAGACCTGTCCCTGGTAATGG	0.507000													46	99					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079269	57079269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:57079269G>A	ENST00000316981.3	-	5	1515	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	PLAG1_ENST00000423799.2_Missense_Mutation_p.P264S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P346S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	346	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTTTTTCAGGAATAGAAATT	0.428000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								28	80					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003741	41003741	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:41003741C>T	ENST00000308423.2	+	1	541	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	127					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CACTGGCCATCGTCTTCTTTG	0.647000													7	24					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418833	105418833	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:105418833G>A	ENST00000333244.5	-	7	3074	c.2955C>T	c.(2953-2955)tcC>tcT	p.S985S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	985						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCCAGGGACAGGTCCC	0.612000													71	252					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722072	7722072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7722072G>A	ENST00000572933.1	+	70	12108	c.10648G>A	c.(10648-10650)Gag>Aag	p.E3550K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3550K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3550	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAGCTCAAGGAGCTGGAGGA	0.627000													15	51					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20038380	20038380	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:20038380G>A	ENST00000440926.1	-	3	566	c.96C>T	c.(94-96)ctC>ctT	p.L32L	SLC18A1_ENST00000519026.1_Silent_p.L32L|SLC18A1_ENST00000437980.1_Silent_p.L32L|SLC18A1_ENST00000276373.5_Silent_p.L32L|SLC18A1_ENST00000265808.7_Silent_p.L32L|SLC18A1_ENST00000381608.4_Silent_p.L32L	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	32					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TGTTGTCCAGGAGCAAAGCGA	0.577000													9	25					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685279	241685279	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:241685279G>A	ENST00000498729.2	-	31	3496	c.3250C>T	c.(3250-3252)Ctg>Ttg	p.L1084L	KIF1A_ENST00000320389.7_Silent_p.L983L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	983					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCCCATCCAGGGCGGCTTTC	0.612000													3	19					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836757	43836757	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:43836757C>T	ENST00000372781.3	+	2	876	c.819C>T	c.(817-819)ctC>ctT	p.L273L	SEMG1_ENST00000244069.6_Silent_p.L273L	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAAAAATCTCAATCAAGATC	0.393000													32	52					0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151166205	151166205	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:151166205C>T	ENST00000394123.3	+	2	169	c.24C>T	c.(22-24)ccC>ccT	p.P8P	G3BP1_ENST00000356245.3_Silent_p.P8P|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	8					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCG	0.478000													24	54					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727451	42727451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:42727451C>T	ENST00000287777.4	+	1	441	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_152393.2	NP_689606.2			kelch-like family member 40																		TTCCAGATCCCTTCCATCTTC	0.622000													21	108					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													3	48					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	135					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47686994	47686994	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:47686994G>A	ENST00000397708.1	-	11	2945	c.2691C>T	c.(2689-2691)acC>acT	p.T897T	MCM3AP_ENST00000291688.1_Silent_p.T897T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	897					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGGAAAGATGGTAGATCGCT	0.582000													12	7					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70040442	70040442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:70040442G>A	ENST00000370598.1	+	23	3901	c.3080G>A	c.(3079-3081)gGa>gAa	p.G1027E	BAI3_ENST00000238918.8_Missense_Mutation_p.G233E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1027					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTTTTGTGGGACCTGCAGCC	0.363000													13	30					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010017	27010017	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:27010017G>A	ENST00000314616.6	+	15	2068	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	SUPT6H_ENST00000347486.4_Silent_p.Q595Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	595					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TAGCCCTGCAGATTGCCCGTG	0.552000													5	17					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519149	129519149	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:129519149G>A	ENST00000276218.2	-	1	362	c.273C>T	c.(271-273)gcC>gcT	p.A91A		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	91						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TGAGGACAGAGGCAGCTGCGG	0.587000													21	78					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74097455	74097455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74097455G>A	ENST00000607838.1	-	4	408	c.314C>T	c.(313-315)cCc>cTc	p.P105L	EXOC7_ENST00000411744.2_Missense_Mutation_p.P105L|EXOC7_ENST00000406660.3_Missense_Mutation_p.P105L|EXOC7_ENST00000405575.4_Missense_Mutation_p.P105L|EXOC7_ENST00000589210.1_Missense_Mutation_p.P105L|EXOC7_ENST00000335146.7_Missense_Mutation_p.P105L|EXOC7_ENST00000332065.5_Missense_Mutation_p.P105L|EXOC7_ENST00000467929.2_Missense_Mutation_p.P64L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	105					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTACCTGTGGGGCTGGGAAA	0.512000													26	58					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412723	158412723	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:158412723G>A	ENST00000243349.7	-	3	786	c.426C>T	c.(424-426)tcC>tcT	p.S142S	ACVR1C_ENST00000409680.3_Silent_p.S92S|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	142					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCTTCCTGTAGGAGCACTGTC	0.483000													8	15					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960392	7960392	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:7960392G>A	ENST00000360759.3	-	1	749	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCATCTTCAGGATGGCAAAC	0.433000													14	44					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64041132	64041132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:64041132G>A	ENST00000324472.4	-	5	785	c.602C>T	c.(601-603)tCc>tTc	p.S201F	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	201					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAATACCAGGAGGCTATGAT	0.299000													7	43					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882071	108882071	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:108882071T>C	ENST00000375898.3	+	2	806	c.505T>C	c.(505-507)Tct>Cct	p.S169P		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	169						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTACTTAGATTCTGAAGCTGT	0.388000													20	37					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714649	28714649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28714649C>T	ENST00000257197.3	-	12	2023	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E588K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	588	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAAAATCCTCATTATTCTGA	0.393000													12	12					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591770	81591770	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:81591770C>T	ENST00000356860.3	-	35	3160	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R953Q|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.R153Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	953						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCAAGGAGTCGTGGAAAGGT	0.328000													5	7					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932595	73932595	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:73932595C>T	ENST00000476977.1	+	5	2239	c.548C>T	c.(547-549)cCc>cTc	p.P183L	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P215L|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P183L|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P183L			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	183						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGTATGACCCCAAGGCCCTC	0.682000													5	29					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48250288	48250288	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:48250288G>A	ENST00000246802.5	+	2	327	c.289_splice	c.e2+1	p.G97_splice	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	97						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGGAAAAAGGTGAGGAGAG	0.483000													16	30					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616159	13616159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:13616159C>A	ENST00000040738.5	-	4	970	c.835G>T	c.(835-837)Gag>Tag	p.E279*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	279							DNA binding										TCGCTGAACTCTTCAGACTTT	0.398000													16	35					6.49762e-13	6.67653e-13	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117742078	117742078	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:117742078G>A	ENST00000276204.6	+	25	2799	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N	DOCK11_ENST00000276202.7_Missense_Mutation_p.D909N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	909					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAAGGCTTGGATAGTTATCT	0.318000													19	16					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928815	2928815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:2928815C>T	ENST00000397461.1	+	9	1231	c.847C>T	c.(847-849)Cct>Tct	p.P283S	CNTN4_ENST00000358480.3_Missense_Mutation_p.P64S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P283S|CNTN4_ENST00000418658.1_Missense_Mutation_p.P283S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	283	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTGAGATCCCTAATTTTCA	0.418000													3	34					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50148380	50148380	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50148380G>T	ENST00000360565.3	+	2	221	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	33					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCTCCTTCTGCCTTTATCCT	0.637000													3	22					0.004672	0.00470063	1	1	0
KRT38	8687	broad.mit.edu	37	17	39596955	39596955	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39596955G>A	ENST00000246646.3	-	1	218	c.219C>T	c.(217-219)tgC>tgT	p.C73C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	73	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AAGCAGTGTGGCAGGTAGGCG	0.607000													16	54					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747348	62747348	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62747348G>A	ENST00000377871.3	-	7	1376	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC22A6_ENST00000360421.4_Silent_p.I370I|SLC22A6_ENST00000421062.2_Silent_p.I370I|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Silent_p.I370I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	370					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGATCACCTGGATTAGGTAGA	0.562000													8	51					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857429	30857429	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:30857429C>T	ENST00000403066.1	-	12	1055	c.772G>A	c.(772-774)Gga>Aga	p.G258R	SEC14L3_ENST00000402286.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G258R|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G258R|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G317R|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G258R			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	317						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)	AGGAAAACTCCGAAGCCGATG	0.602000													21	29					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109481892	109481892	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:109481892C>T	ENST00000407272.1	+	12	1711	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	CEP57L1_ENST00000368968.2_Silent_p.I378I|CEP57L1_ENST00000368970.2_Silent_p.I395I|CEP57L1_ENST00000359793.3_Silent_p.I378I|CEP57L1_ENST00000521522.1_Silent_p.I325I|CEP57L1_ENST00000523787.1_Silent_p.I381I|CEP57L1_ENST00000517392.1_Silent_p.I378I|CEP57L1_ENST00000520883.1_Silent_p.I278I|CEP57L1_ENST00000336977.4_Silent_p.I278I	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	378						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAGAACAAATCTCCAAACTGA	0.333000													12	18					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34184278	34184278	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34184278G>A	ENST00000435224.2	-	10	2487	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A502V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	502							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACACCCTCGGCCAGGATCTC	0.657000													14	36					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16769383	16769383	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:16769383C>T	ENST00000381323.3	-	3	225	c.5G>A	c.(4-6)gGa>gAa	p.G2E	FAM49A_ENST00000406434.1_Missense_Mutation_p.G2E|FAM49A_ENST00000355549.2_Missense_Mutation_p.G2E	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	2						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGCAGGTTTCCCATCCCAGC	0.378000													10	19					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102342683	102342683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:102342683C>T	ENST00000438793.3	+	18	2452	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	PAM_ENST00000348126.2_Missense_Mutation_p.P554L|PAM_ENST00000455264.2_Missense_Mutation_p.P661L|PAM_ENST00000379787.4_Missense_Mutation_p.P41L|PAM_ENST00000346918.2_Missense_Mutation_p.P661L|PAM_ENST00000274392.9_Missense_Mutation_p.P564L|PAM_ENST00000304400.7_Missense_Mutation_p.P661L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	661	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGTTTTCACCAAGTGGAAAG	0.443000													10	25					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889228	147889228	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:147889228G>A	ENST00000360693.3	-	6	1005	c.867C>T	c.(865-867)gtC>gtT	p.V289V	HTR4_ENST00000517929.1_Silent_p.V289V|HTR4_ENST00000354217.2_Silent_p.V289V|HTR4_ENST00000521735.1_Silent_p.V289V|HTR4_ENST00000521530.1_Silent_p.V289V|HTR4_ENST00000314512.6_Silent_p.V289V|HTR4_ENST00000520514.1_Silent_p.V289V|HTR4_ENST00000362016.2_Silent_p.V303V|HTR4_ENST00000377888.3_Silent_p.V289V	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	289					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCTGCCCAGGGACAGTGTAGT	0.493000													10	30					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44549970	44549970	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:44549970C>T	ENST00000541738.1	-	12	2039	c.1653G>A	c.(1651-1653)acG>acA	p.T551T	PREPL_ENST00000260648.6_Silent_p.T640T|PREPL_ENST00000378511.3_Silent_p.T578T|PREPL_ENST00000410081.1_Silent_p.T640T|PREPL_ENST00000409957.1_Silent_p.T551T|PREPL_ENST00000378520.3_Silent_p.T574T|PREPL_ENST00000409936.1_Silent_p.T640T|PREPL_ENST00000409272.1_Silent_p.T640T|PREPL_ENST00000409411.1_Silent_p.T551T	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	640					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTCATATGCCGTTATGTGAA	0.388000													24	63					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641225	36641225	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:36641225G>A	ENST00000373448.2	-	3	1232	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	TTI1_ENST00000449821.1_Missense_Mutation_p.L332F|TTI1_ENST00000373447.3_Missense_Mutation_p.L332F|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	332							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCCTTCAGAAGGGGACCAGCA	0.453000													19	67					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56819251	56819251	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:56819251C>T	ENST00000370754.5	-	1	134	c.135G>A	c.(133-135)ggG>ggA	p.G45G				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGATGCCTCCCTTTCTGGA	0.562000													10	15					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184368027	184368027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:184368027C>T	ENST00000504169.1	+	3	1397	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	397	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCCCAGTTGGCTTCTAAGAGT	0.458000													7	34					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263190	51263190	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:51263190G>A	ENST00000266037.9	+	15	1386	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	455	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTATGCAGATGGAGAAATCTT	0.428000													5	51					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949514	89949514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:89949514G>A	ENST00000405460.2	+	20	4219	c.4123G>A	c.(4123-4125)Gat>Aat	p.D1375N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1375					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATAGCGAAGGATGACGGTAA	0.403000													3	17					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001791	140001791	+	Silent	SNP	C	C	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140001791C>A	ENST00000371589.4	+	11	1729	c.1656C>A	c.(1654-1656)ctC>ctA	p.L552L	MAN1B1_ENST00000474902.1_Silent_p.L255L|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	552					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCCAGGAGCTCATGGAGACTT	0.642000													25	51					6.32553e-13	6.50785e-13	1	1	0
KRT38	8687	broad.mit.edu	37	17	39596993	39596993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39596993G>A	ENST00000246646.3	-	1	180	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGCCCAGGGGAGTGGACCCC	0.637000													10	60					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241146	26241146	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:26241146T>A	ENST00000265944.5	+	3	273	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	MYO3A_ENST00000543632.1_Missense_Mutation_p.F36Y|MYO3A_ENST00000376301.1_Missense_Mutation_p.F36Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.F36Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	36	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGAAAGTTTTTAAAGTATTG	0.308000													9	13					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276687	114276687	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:114276687G>A	ENST00000357077.4	+	38	6966	c.6913G>A	c.(6913-6915)Gag>Aag	p.E2305K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2272K|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2272					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)		GACCTCTACTGAGAGTTTTCA	0.473000													6	32					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130947941	130947941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:130947941G>A	ENST00000538431.1	-	5	720	c.473C>T	c.(472-474)tCc>tTc	p.S158F	CIZ1_ENST00000393608.1_Missense_Mutation_p.S158F|CIZ1_ENST00000357558.5_Missense_Mutation_p.S158F|CIZ1_ENST00000541172.1_Missense_Mutation_p.S57F|CIZ1_ENST00000372954.1_Missense_Mutation_p.S134F|CIZ1_ENST00000372938.5_Missense_Mutation_p.S158F|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_Missense_Mutation_p.S134F|CIZ1_ENST00000277465.4_Missense_Mutation_p.S158F|CIZ1_ENST00000372948.3_Missense_Mutation_p.S158F	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	158						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCCCAGCAAGGACTGGCGAGT	0.612000													4	39					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342558	65342558	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:65342558C>T	ENST00000402939.2	-	23	3883	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1324					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCCTTGGGTCGGCATGCCCC	0.672000													6	71					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139691909	139691909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:139691909C>T	ENST00000303045.6	-	40	3469	c.3023G>A	c.(3022-3024)gGa>gAa	p.G1008E	COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1008	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGACTTTTCCGCAAGCAGC	0.418000										HNSCC(7;0.00092)			13	70					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345544	121345544	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:121345544C>T	ENST00000338040.4	+	4	2331	c.1917C>T	c.(1915-1917)atC>atT	p.I639I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	639					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)		CTCAACAGATCTGGCAGTTCA	0.438000													27	95					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003454	166003454	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:166003454G>A	ENST00000360093.3	-	12	1957	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	SCN3A_ENST00000409101.3_Missense_Mutation_p.S489L|SCN3A_ENST00000283254.7_Missense_Mutation_p.S489L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	489						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTCAACTTTGATGCTTCTGA	0.443000													14	97					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883877	63883877	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63883877G>A	ENST00000246841.3	+	2	1181	c.138G>A	c.(136-138)acG>acA	p.T46T	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	18	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.T46T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCTTCCTGACGGAGGTCATCG	0.637000													10	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433511	179433511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179433511C>T	ENST00000589042.1	-	326	77572	c.77348G>A	c.(77347-77349)cGg>cAg	p.R25783Q	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24142Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23215Q|TTN_ENST00000460472.2_Missense_Mutation_p.R16718Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16843Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16910Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24142	Fibronectin type-III 87.						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)			TGCAAGGGACCGAGGATCACT	0.413000													8	37					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732899	80732899	+	Silent	SNP	G	G	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:80732899G>A	ENST00000458043.2	+	42	4884	c.4878G>A	c.(4876-4878)caG>caA	p.Q1626Q	OTOGL_ENST00000547103.1_Silent_p.Q1614Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTCAAGTCAGGAACTGTCCA	0.343000													19	42					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839057	15839057	+	Silent	SNP	C	C	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:15839057C>T	ENST00000305899.3	+	1	224	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCTCAGTCTCCGAGATCC	0.632000													18	78					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50616159	50616159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:50616159delT	ENST00000341247.4	-	4	424	c.275delA	c.(274-276)acfs	p.N92fs	LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.N92fs|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	92					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTGCTGCTGTTCCGTAGAGA	0.522													39	133	---	---	---	---					
LGALS3	3958	broad.mit.edu	37	14	55604098	55604100	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:55604098_55604100delGAC	ENST00000254301.9	+	2	268_270	c.7_9delGAC	c.(7-9)del	p.D3del	LGALS3_ENST00000553755.1_Intron|LGALS3_ENST00000554715.1_In_Frame_Del_p.D3del	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	3					cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAAAATGGCAGACAATTTTTCGG	0.384													17	93	---	---	---	---					
