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
PGAP1	80055	broad.mit.edu	37	2	197712707	197712707	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:197712707A>G	ENST00000354764.3	-	21	2030	c.1916T>C	c.(1915-1917)gTt>gCt	p.V639A	PGAP1_ENST00000409475.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	639					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAAAGGATCAACTTTGTATGG	0.279000													43	52					0	0	0.014410	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051605	193051605	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:193051605G>A	ENST00000342358.4	-	11	1323	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	402					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGGAACACGATGAACTTGA	0.453000													42	34					0	0	0.006999	0	0
BCAN	63827	broad.mit.edu	37	1	156628431	156628431	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:156628431G>C	ENST00000329117.4	+	13	2870	c.2534G>C	c.(2533-2535)cGg>cCg	p.R845P	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000496038.1_3'UTR	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	845	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACCGGTGCCGGGAAGGACTG	0.657000													139	9					0	0	0.014410	0	0
NDST4	64579	broad.mit.edu	37	4	115769380	115769380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:115769380C>T	ENST00000264363.2	-	9	2609	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	644	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCAGTCTATTCCTTTGTGATA	0.333000													21	28					0	0	0.003330	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216262	77216262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:77216262C>T	ENST00000426126.2	+	8	1497	c.848C>T	c.(847-849)gCa>gTa	p.A283V	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.A283V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	283					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GCAAGGCAAGCAAAAGGATAT	0.353000													26	9					0	0	0.006320	0	0
PTCH2	8643	broad.mit.edu	37	1	45293862	45293862	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:45293862G>A	ENST00000447098.2	-	14	1722	c.1709_splice	c.e14-1	p.P571_splice	PTCH2_ENST00000372192.3_Splice_Site_p.P571_splice	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	571					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)					GCAGAGCAGGGACTGGAAGAG	0.617000									Basal Cell Nevus syndrome				35	6					0	0	0.003271	0	0
TTC29	83894	broad.mit.edu	37	4	147724760	147724760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:147724760C>T	ENST00000513335.1	-	12	1456	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000325106.4_Missense_Mutation_p.M393I|TTC29_ENST00000398886.4_Missense_Mutation_p.M419I			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	393							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGTCTCATCCATCAGAGGCA	0.393000													4	10					0	0	0.009096	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607030	131607030	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:131607030G>C	ENST00000253754.3	+	5	605	c.541G>C	c.(541-543)Gac>Cac	p.D181H	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D181H|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	181				RGLPRSRDC -> EASRGAGS (in Ref. 1; CAA63767).			protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGAGCCGGGACTGCAGAGT	0.657000													29	3					0	0	0.007291	0	0
OR4N2	390429	broad.mit.edu	37	14	20296457	20296457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20296457C>T	ENST00000315947.1	+	1	850	c.850C>T	c.(850-852)Cct>Tct	p.P284S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	284					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)		TTTGTTGAATCCTGTCATTTA	0.433000													27	76					0	0	0.006320	0	0
NALCN	259232	broad.mit.edu	37	13	101733929	101733929	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:101733929G>A	ENST00000251127.6	-	34	3915	c.3834C>T	c.(3832-3834)ctC>ctT	p.L1278L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1278						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGTCACCAGGAGATCGTATC	0.448000													55	27					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13777440	13777440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13777440C>T	ENST00000265104.4	-	54	9080	c.8976G>A	c.(8974-8976)atG>atA	p.M2992I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2992	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGATCTTCCATCAGATTTG	0.328000									Kartagener syndrome				40	22					0	0	0.014410	0	0
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:30980647G>A	ENST00000402281.1	-	7	1000	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PES1_ENST00000335214.6_Silent_p.F142F|PES1_ENST00000405677.1_Silent_p.F3F|PES1_ENST00000402284.3_Silent_p.F142F|PES1_ENST00000354694.6_Silent_p.F142F			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	142	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGAAAACAGGAAGCACATGG	0.607000													19	22					0	0	0.010504	0	0
CARD6	84674	broad.mit.edu	37	5	40852421	40852421	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:40852421C>T	ENST00000254691.5	+	3	1186	c.987C>T	c.(985-987)ttC>ttT	p.F329F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	329					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTGGAATTTCCTGATGAAAG	0.463000													24	41					0	0	0.002780	0	0
CFHR4	10877	broad.mit.edu	37	1	196874340	196874340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:196874340G>A	ENST00000367416.2	+	3	493	c.356G>A	c.(355-357)gGa>gAa	p.G119E	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											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						TGTAAACCAGGATATGCAACA	0.303000													33	55					0	0	0.003271	0	0
CSMD3	114788	broad.mit.edu	37	8	113308069	113308069	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:113308069G>A	ENST00000297405.5	-	54	8851	c.8607C>T	c.(8605-8607)tcC>tcT	p.S2869S	CSMD3_ENST00000455883.2_Silent_p.S2700S|CSMD3_ENST00000352409.3_Silent_p.S2799S|CSMD3_ENST00000343508.3_Silent_p.S2829S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2869	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACGCACACAGGATGGGAGCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	14					0	0	0.010729	0	0
RAI2	10742	broad.mit.edu	37	X	17819064	17819064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:17819064G>A	ENST00000545871.1	-	3	1527	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	RAI2_ENST00000331511.1_Missense_Mutation_p.P356L|RAI2_ENST00000415486.3_Missense_Mutation_p.P306L|RAI2_ENST00000360011.1_Missense_Mutation_p.P356L|RAI2_ENST00000451717.1_Missense_Mutation_p.P356L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	356					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGTCTCAGGGGGAGGCTCGGA	0.562000													47	4					0	0	0.013114	0	0
HSPA8	3312	broad.mit.edu	37	11	122931912	122931912	+	Missense_Mutation	SNP	A	A	G	rs75739900		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:122931912A>G	ENST00000534624.1	-	2	397	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	HSPA8_ENST00000533540.1_Missense_Mutation_p.Y41H|HSPA8_ENST00000532636.1_Missense_Mutation_p.Y41H|HSPA8_ENST00000227378.3_Missense_Mutation_p.Y41H|HSPA8_ENST00000526110.1_Missense_Mutation_p.Y41H|HSPA8_ENST00000453788.2_Missense_Mutation_p.Y41H	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	41					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGCGACATAGCTTGGAGTG	0.463000													4	26					0	0	0.009096	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37469593	37469593	+	Missense_Mutation	SNP	C	C	T	rs137853120		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:37469593C>T	ENST00000381792.2	-	13	1674	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D521N|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D512N|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D512N			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	521	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGCTCTTCGTCGCTGCCGTTG	0.552000													55	78					0	0	0.014410	0	0
GGCT	79017	broad.mit.edu	37	7	30538442	30538442	+	Missense_Mutation	SNP	G	G	A	rs142543540	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:30538442G>A	ENST00000275428.4	-	3	534	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.P134S|GGCT_ENST00000598361.1_Missense_Mutation_p.P49S|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409390.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	134					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGGGATGGGGGAGCACTTTCG	0.318000													32	129					0	0	0.013726	0	0
SCN7A	6332	broad.mit.edu	37	2	167288995	167288995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:167288995C>T	ENST00000409855.1	-	15	2551	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	809					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTGCTTTTTTCCTTATCTTTG	0.398000													131	155					0	0	0.014410	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	47					0	0	0.001168	0	0
ZNF304	57343	broad.mit.edu	37	19	57868434	57868434	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:57868434C>T	ENST00000391705.3	+	4	1481	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	ZNF304_ENST00000598744.1_Silent_p.F357F|ZNF304_ENST00000443917.2_Silent_p.F446F|ZNF304_ENST00000282286.5_Silent_p.F399F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGGAAAATTCTTTAGCCAAA	0.428000													24	21					0	0	0.003330	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	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													45	602					0	0	0.014410	0	0
CA10	56934	broad.mit.edu	37	17	50008390	50008390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:50008390G>A	ENST00000451037.2	-	3	1179	c.239C>T	c.(238-240)cCc>cTc	p.P80L	CA10_ENST00000442502.2_Missense_Mutation_p.P80L|CA10_ENST00000285273.4_Missense_Mutation_p.P80L|CA10_ENST00000340813.6_Missense_Mutation_p.P86L|CA10_ENST00000570565.1_Missense_Mutation_p.P5L	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	80					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTCAGAAAGGGGTCGAAGAT	0.502000													177	187					0	0	0.014410	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168380	142168380	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142168380C>T	ENST00000454561.2	-	0	543																											CCGGGCTGTGCCAAGCTGCTG	0.527000													47	128					0	0	0.014410	0	0
RXFP1	59350	broad.mit.edu	37	4	159493978	159493978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:159493978G>A	ENST00000307765.5	+	2	429	c.178G>A	c.(178-180)Gac>Aac	p.D60N	RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000423548.1_Missense_Mutation_p.D60N|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.D60N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D60N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	60	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGCCGATGAGGACAACTGTGG	0.527000													14	27					0	0	0.003163	0	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:171178045C>T	ENST00000441535.1	+	9	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P457S|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	457					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000													234	18					0	0	0.014410	0	0
NLRP11	204801	broad.mit.edu	37	19	56297232	56297232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56297232G>A	ENST00000443188.1	-	12	3571	c.2861C>T	c.(2860-2862)cCa>cTa	p.P954L	NLRP11_ENST00000592953.1_Missense_Mutation_p.P855L|NLRP11_ENST00000360133.3_Missense_Mutation_p.P900L|NLRP11_ENST00000589824.2_Missense_Mutation_p.P900L|NLRP11_ENST00000589093.1_Missense_Mutation_p.P954L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	954							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCAGTTAATGGAAGCCTGAA	0.433000													47	33					0	0	0.014410	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815267	106815267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:106815267G>A	ENST00000407775.2	+	8	3207	c.2957G>A	c.(2956-2958)gGa>gAa	p.G986E	ZFPM2_ENST00000517361.1_Missense_Mutation_p.G854E|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G854E|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G717E|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	986					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCATATTATGGAATCAAGCCA	0.403000													10	12					0	0	0.006214	0	0
OR8K5	219453	broad.mit.edu	37	11	55926983	55926983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55926983C>T	ENST00000313447.1	-	1	810	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398000													32	17					0	0	0.009535	0	0
APOB	338	broad.mit.edu	37	2	21251370	21251370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:21251370G>A	ENST00000233242.1	-	13	1785	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F	APOB_ENST00000399256.4_Missense_Mutation_p.S553F	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	553	Vitellogenin.				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)	ATCTCCCGGAGAAGCATCATC	0.453000													209	255					0	0	0.014410	0	0
ESRP1	54845	broad.mit.edu	37	8	95709087	95709087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:95709087C>T	ENST00000433389.2	+	15	2169	c.1979C>T	c.(1978-1980)aCc>aTc	p.T660I	ESRP1_ENST00000358397.5_Missense_Mutation_p.T656I|ESRP1_ENST00000423620.2_Intron|ESRP1_ENST00000454170.2_Intron	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	660					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TAGTATGCAACCGAGGATGGA	0.383000													111	92					0	0	0.014410	0	0
OR52A1	23538	broad.mit.edu	37	11	5172742	5172742	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5172742G>A	ENST00000380367.1	-	2	1275	c.858C>T	c.(856-858)gtC>gtT	p.V286V	OR52A1_ENST00000328942.1_Silent_p.V286V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	286					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGGAGGGACCAGCAAGT	0.403000													65	45					0	0	0.014410	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570759	20570759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20570759C>T	ENST00000329697.6	-	3	356	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R63Q|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R63Q|ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R63Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	63					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGGGAGTCGCTTGCCAGC	0.512000													18	23					0	0	0.003330	0	0
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:84811238C>T	ENST00000389394.3	+	15	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000237449.6_Missense_Mutation_p.S782F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	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						ATGAAGCCATCCATTGTTGCT	0.398000													41	53					0	0	0.007835	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257140	140257140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140257140G>A	ENST00000398631.2	+	1	2083	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTGGTGGATATTAACGT	0.652000													33	3					0	0	0.003755	0	0
KCNH5	27133	broad.mit.edu	37	14	63174859	63174859	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:63174859G>A	ENST00000322893.7	-	11	2602	c.2334C>T	c.(2332-2334)aaC>aaT	p.N778N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	778					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)		TGGCATCACGGTTGTTCTGCT	0.493000													38	51					0	0	0.006999	0	0
TRMT5	57570	broad.mit.edu	37	14	61442787	61442787	+	Missense_Mutation	SNP	G	G	A	rs143033104		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:61442787G>A	ENST00000261249.6	-	4	1234	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	284						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GTAGACAGACGAGGATTCCAA	0.413000													48	53					0	0	0.014410	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	C	T	rs145326290	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:104449164C>T	ENST00000361820.3	-	2	1618	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	340					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTAATTTCGAAAATCCGC	0.517000													31	3					0	0	0.010818	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749124	211749124	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:211749124A>C	ENST00000367001.4	-	2	1259	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	377					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCTTCCAGCAAGTTGCCAAAC	0.353000													73	7					0	0	0.014410	0	0
OAS1	4938	broad.mit.edu	37	12	113346461	113346461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:113346461G>A	ENST00000452357.2	+	2	491	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.E101K|OAS1_ENST00000445409.2_Missense_Mutation_p.E101K|OAS1_ENST00000202917.5_Missense_Mutation_p.E101K|OAS1_ENST00000551241.1_Missense_Mutation_p.E101K	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	101					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GTTCATCCAGGAAATTAGGAG	0.552000													14	38					0	0	0.004990	0	0
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:114282577C>T	ENST00000393500.3	+	13	1483	c.663C>T	c.(661-663)tcC>tcT	p.S221S	FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000393494.2_Silent_p.S296S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S			O15409	FOXP2_HUMAN	forkhead box P2	296	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443000													33	85					0	0	0.012213	0	0
RBM22	55696	broad.mit.edu	37	5	150072520	150072520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:150072520G>A	ENST00000199814.4	-	10	1190	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	RBM22_ENST00000540000.1_Missense_Mutation_p.P308S|RBM22_ENST00000447771.2_Missense_Mutation_p.P308S	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	357	Pro-rich.				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)			ACAGCTGGAGGACCACTTGGG	0.547000													78	7					0	0	0.014410	0	0
KYNU	8942	broad.mit.edu	37	2	143676226	143676226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:143676226G>A	ENST00000264170.4	+	3	476	c.218G>A	c.(217-219)gGa>gAa	p.G73E	KYNU_ENST00000410015.2_Missense_Mutation_p.G73E|KYNU_ENST00000409512.1_Missense_Mutation_p.G73E|KYNU_ENST00000375773.2_Missense_Mutation_p.G73E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	73					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TATTTCTTGGGAAATTCTCTT	0.279000													18	34					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9091259	9091259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9091259G>A	ENST00000397910.4	-	1	759	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	186	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P186S(2)		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						ATTTTTACAGGAATATATCTT	0.473000													21	51					0	0	0.014323	0	0
KCNA6	3742	broad.mit.edu	37	12	4919938	4919938	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:4919938G>T	ENST00000433855.1	+	1	1597	c.731G>T	c.(730-732)gGg>gTg	p.G244V	KCNA6_ENST00000280684.3_Missense_Mutation_p.G244V	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	244						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAATGGGGACCGGGGGC	0.547000										HNSCC(72;0.22)			42	92					2.24059e-37	3.16935e-37	0.014410	1	0
CLDN11	5010	broad.mit.edu	37	3	170150445	170150445	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:170150445C>T	ENST00000064724.3	+	3	727	c.525C>T	c.(523-525)atC>atT	p.I175I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	175					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGTGTCATCCTCTGCTGCG	0.587000													86	103					0	0	0.014410	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239185	55239185	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55239185T>G	ENST00000291860.1	+	4	482	c.464T>G	c.(463-465)cTg>cGg	p.L155R	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	155	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGCTTCCTTCTGCACAGAGAG	0.582000													45	1					0	0	0.014410	0	0
MFN1	55669	broad.mit.edu	37	3	179096489	179096489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:179096489C>T	ENST00000471841.1	+	14	1675	c.1549C>T	c.(1549-1551)Caa>Taa	p.Q517*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.Q517*|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	517					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTCAGATTTTCAAGAGGATAT	0.388000													25	30					0	0	0.002780	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655756	138655756	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:138655756T>A	ENST00000251691.4	+	33	5939	c.5773T>A	c.(5773-5775)Tgt>Agt	p.C1925S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1925					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGGAGAACTGTATGGAGGA	0.567000													15	23					0	0	0.004007	0	0
SMOC1	64093	broad.mit.edu	37	14	70478208	70478208	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:70478208G>A	ENST00000381280.4	+	9	1117	c.864G>A	c.(862-864)gtG>gtA	p.V288V	SMOC1_ENST00000361956.3_Silent_p.V288V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	288	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGCTACGTGATGCCCAGTT	0.582000													50	45					0	0	0.014410	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449894	35449894	+	RNA	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:35449894A>G	ENST00000430846.1	+	0	2744																											GAATAAGCCAACCTGCAACCT	0.433000													17	3					0	0	0.004007	0	0
GPX6	257202	broad.mit.edu	37	6	28474159	28474159	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:28474159A>T	ENST00000361902.1	-	3	338	c.289T>A	c.(289-291)Ttg>Atg	p.L97M	GPX6_ENST00000474923.1_Missense_Mutation_p.L97M|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	97					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGAAAGGCCAACACAATGACA	0.483000													89	44					0	0	0.014410	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646022	51646022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:51646022G>A	ENST00000317643.6	+	1	465	c.396G>A	c.(394-396)tgG>tgA	p.W132*	SIGLEC7_ENST00000600577.1_Nonsense_Mutation_p.W132*|SIGLEC7_ENST00000305628.7_Nonsense_Mutation_p.W132*	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	132					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATATAAAATGGAATTATAAAT	0.478000													17	38					0	0	0.006122	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641671	121641671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121641671G>A	ENST00000489711.1	+	9	1218	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R246Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	277					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATTCCAAAGCGACAGCACTGG	0.423000													14	29					0	0	0.004007	0	0
CNGA4	1262	broad.mit.edu	37	11	6261746	6261746	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:6261746A>T	ENST00000379936.2	+	4	837	c.722A>T	c.(721-723)gAa>gTa	p.E241V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	241					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCCAGGGAAGAAGAGTAC	0.557000													51	38					0	0	0.014410	0	0
MIR515-1	574462	broad.mit.edu	37	19	54182275	54182275	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:54182275C>T	ENST00000384884.1	+	0	19					NR_030184.1|NR_030187.1																						AGTCATTCTCCAAAAGAAAGC	0.373000													25	16					0	0	0.004656	0	0
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423000													7	230					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179612857	179612857	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179612857T>A	ENST00000360870.5	-	46	14492	c.14270A>T	c.(14269-14271)aAt>aTt	p.N4757I	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	869							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)			TCTGCCTCCATTTTCTAGAGG	0.398000													23	39					0	0	0.002780	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21168707	21168707	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:21168707C>T	ENST00000421593.2	+	1	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGGAAGCTTCGAAATAGGTA	0.308000													8	19					0	0	0.004482	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507419	74507419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:74507419C>T	ENST00000354431.4	-	7	1387	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R399Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	399										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCGCTCCAATCGTATGTCTTT	0.343000													43	3					0	0	0.007835	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783302	9783302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:9783302C>T	ENST00000536656.1	+	20	2826	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V	PIK3CD_ENST00000377346.4_Missense_Mutation_p.A849V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A873V			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	849	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCCACAGCCGCCTTCAACAAG	0.587000													74	8					0	0	0.014410	0	0
DSCR4	10281	broad.mit.edu	37	21	39427007	39427007	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:39427007A>T	ENST00000328264.3	-	3	403	c.299T>A	c.(298-300)cTc>cAc	p.L100H	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	100										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TTTCTTGTGGAGCCCATGGAG	0.468000													52	64					0	0	0.014410	0	0
THSD1	55901	broad.mit.edu	37	13	52951929	52951929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:52951929G>A	ENST00000349258.4	-	4	2561	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	THSD1_ENST00000258613.4_Missense_Mutation_p.P726S|THSD1_ENST00000544466.1_Missense_Mutation_p.P347S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	726						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TAGGATTTAGGGAGAGGGTTT	0.537000													37	116					0	0	0.009718	0	0
REG1P	5969	broad.mit.edu	37	2	79363190	79363190	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:79363190G>A	ENST00000444841.1	-	0	1148																											CTACTCCACTGATAATGGCAG	0.522000													7	20					0	0	0.004482	0	0
AASS	10157	broad.mit.edu	37	7	121755150	121755150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:121755150C>T	ENST00000393376.1	-	8	1116	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	AASS_ENST00000417368.2_Missense_Mutation_p.G341S|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	341	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCAGGGCAGCCTTCCACACCA	0.483000													41	78					0	0	0.007835	0	0
OSBP2	23762	broad.mit.edu	37	22	31266542	31266542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:31266542G>A	ENST00000332585.6	+	3	1084	c.980G>A	c.(979-981)gGc>gAc	p.G327D	OSBP2_ENST00000403222.3_Missense_Mutation_p.G162D|OSBP2_ENST00000382310.3_Missense_Mutation_p.G327D|OSBP2_ENST00000407373.1_Missense_Mutation_p.G154D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Missense_Mutation_p.G327D|OSBP2_ENST00000437268.2_Missense_Mutation_p.G69D	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	327					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCAAGCACGGCGCTGCACTC	0.592000													25	32					0	0	0.007291	0	0
GHR	2690	broad.mit.edu	37	5	42719270	42719270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42719270C>T	ENST00000230882.4	+	10	1851	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	GHR_ENST00000537449.1_Missense_Mutation_p.S367L|GHR_ENST00000357703.3_Missense_Mutation_p.S532L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	554					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGGTTGAATCACACATACAG	0.488000													16	35					0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:51025846G>A	ENST00000442544.2	+	27	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_ENST00000581580.1_Silent_p.P992P|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000													79	12					0	0	0.014410	0	0
CUTC	51076	broad.mit.edu	37	10	101496042	101496042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:101496042C>T	ENST00000370476.5	+	2	230	c.101C>T	c.(100-102)tCa>tTa	p.S34L	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	34					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TGTGTTGATTCAGTGGAATCA	0.393000													37	5					0	0	0.008740	0	0
RIN3	79890	broad.mit.edu	37	14	93151445	93151445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:93151445G>A	ENST00000216487.7	+	9	2740	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	861					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)				CCACCGCTGGGAGCGCCGGCG	0.672000													24	18					0	0	0.003330	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706849	33706849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:33706849G>A	ENST00000253188.3	-	2	328	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	61					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCCCTTGGGCGAGATGAAGAT	0.667000													6	8					0	0	0.001168	0	0
ERBB4	2066	broad.mit.edu	37	2	212426687	212426687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:212426687C>T	ENST00000342788.4	-	20	2738	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E810K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E800K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	810	Protein kinase.				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)		TCCTTGTGCTCGTGGACATAC	0.473000										TSP Lung(8;0.080)			60	81					0	0	0.014410	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42335105G>A	ENST00000262418.6	-	12	1508	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000													20	36					0	0	0.008871	0	0
SVEP1	79987	broad.mit.edu	37	9	113198727	113198727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113198727G>A	ENST00000401783.2	-	28	5033	c.4697C>T	c.(4696-4698)cCa>cTa	p.P1566L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1543L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1566	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACTCAGCTGGGCTGAATCC	0.483000													37	4					0	0	0.004878	0	0
GLP1R	2740	broad.mit.edu	37	6	39053729	39053729	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:39053729C>T	ENST00000373256.4	+	13	1315	c.1272C>T	c.(1270-1272)caC>caT	p.H424H		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	424					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGCTTGAGCACTTGCACATCC	0.577000													77	206					0	0	0.014410	0	0
C4A	720	broad.mit.edu	37	6	31963847	31963847	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:31963847T>C	ENST00000428956.2	+	26	3430	c.3346T>C	c.(3346-3348)Tcg>Ccg	p.S1116P	C4A_ENST00000498271.1_Missense_Mutation_p.S1116P	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCTGACGGCTCGTTCCAGGA	0.612000													42	103					0	0	0.010771	0	0
LMBR1L	55716	broad.mit.edu	37	12	49491488	49491488	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49491488G>T	ENST00000267102.8	-	17	1779	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	LMBR1L_ENST00000547382.1_Missense_Mutation_p.F459L|LMBR1L_ENST00000395141.4_Missense_Mutation_p.F474L	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	479					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGCCTGGGGGAAACCGGAGA	0.607000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	75					1.42033e-22	1.99436e-22	0.004289	1	0
ADH1B	125	broad.mit.edu	37	4	100231927	100231927	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:100231927C>T	ENST00000305046.8	-	8	1165	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	ADH1B_ENST00000394887.3_Silent_p.G326G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	366					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTACCTTTTCCCAGAGTGAA	0.338000													13	40					0	0	0.001855	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688735	26688735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:26688735G>A	ENST00000529632.2	+	2	654	c.458G>A	c.(457-459)gGc>gAc	p.G153D	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G153D|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G153D|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G153D|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G153D	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	153						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCGTCCCAGGGCCTAGATCTC	0.667000													25	30					0	0	0.005443	0	0
CDH18	1016	broad.mit.edu	37	5	19503104	19503104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:19503104C>T	ENST00000507958.1	-	13	2617	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CDH18_ENST00000511273.1_Missense_Mutation_p.E543K|CDH18_ENST00000274170.4_Missense_Mutation_p.E543K|CDH18_ENST00000506372.1_Missense_Mutation_p.E543K|CDH18_ENST00000502796.1_Missense_Mutation_p.E543K|CDH18_ENST00000382275.1_Missense_Mutation_p.E543K			Q13634	CAD18_HUMAN	cadherin 18, type 2	543	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTTCACCTTCATTGTCCTTC	0.353000													23	44					0	0	0.003330	0	0
PTPRC	5788	broad.mit.edu	37	1	198701444	198701444	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:198701444T>C	ENST00000367376.2	+	19	2155	c.1984T>C	c.(1984-1986)Ttc>Ctc	p.F662L	PTPRC_ENST00000442510.2_Missense_Mutation_p.F664L|PTPRC_ENST00000352140.3_Missense_Mutation_p.F614L|PTPRC_ENST00000348564.6_Missense_Mutation_p.F503L|PTPRC_ENST00000594404.1_Missense_Mutation_p.F501L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	662	Tyrosine-protein phosphatase 1.				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						CCCGCGGGTGTTCAGCAAGTT	0.393000													27	32					0	0	0.010818	0	0
CPE	1363	broad.mit.edu	37	4	166405684	166405684	+	Missense_Mutation	SNP	C	C	T	rs138641684		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:166405684C>T	ENST00000402744.4	+	5	1181	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	301					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.R301C(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCACCATGTCGCAAGAATGA	0.522000													97	130					0	0	0.014410	0	0
B3GALTL	145173	broad.mit.edu	37	13	31848745	31848745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:31848745C>T	ENST00000343307.4	+	9	909	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	254					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TACCACATTCCATTCTTTTCT	0.438000													57	24					0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149490679	149490679	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:149490679G>A	ENST00000378016.2	+	0	6053							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)			GAGGGGACGGGAGAATCATGC	0.637000													51	87					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240635710	240635710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240635710G>A	ENST00000319653.9	+	17	5329	c.5099G>A	c.(5098-5100)gGa>gAa	p.G1700E	AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_Missense_Mutation_p.G296E|FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Missense_Mutation_p.G20E	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1700					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAAGAAAGGAAAATCACTT	0.318000													38	42					0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9351894	9351894	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:9351894A>T	ENST00000378501.2	+	7	552	c.537A>T	c.(535-537)gaA>gaT	p.E179D	PLCB4_ENST00000414679.2_Missense_Mutation_p.E179D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E179D|PLCB4_ENST00000378473.3_Missense_Mutation_p.E179D|PLCB4_ENST00000278655.4_Missense_Mutation_p.E179D|PLCB4_ENST00000334005.3_Missense_Mutation_p.E179D	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	179					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						GAAAAACAGAAAAGGTGATCT	0.328000													66	63					0	0	0.014410	0	0
ACLY	47	broad.mit.edu	37	17	40063734	40063734	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:40063734G>A	ENST00000352035.2	-	7	838	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_ENST00000590151.1_Silent_p.I236I|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	236					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587000													36	98					0	0	0.010771	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037767	48037767	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:48037767T>A	ENST00000295461.5	+	6	877	c.811T>A	c.(811-813)Tac>Aac	p.Y271N		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	271						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GAAGCCAGTTTACAAACATCC	0.413000													10	30					0	0	0.006214	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:44670039G>A	ENST00000454036.1	+	8	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309E|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000													38	54					0	0	0.005524	0	0
SLC37A2	219855	broad.mit.edu	37	11	124947392	124947392	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:124947392C>T	ENST00000403796.2	+	4	583	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SLC37A2_ENST00000407458.1_Silent_p.F94F|SLC37A2_ENST00000308074.4_Silent_p.F94F|SLC37A2_ENST00000298280.5_Silent_p.F94F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	94					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ACAACGCCTTCCTCATCGCCT	0.522000													8	0					0	0	0.004482	0	0
FLNC	2318	broad.mit.edu	37	7	128483367	128483367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:128483367C>T	ENST00000325888.8	+	17	2896	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	FLNC_ENST00000346177.6_Missense_Mutation_p.R879C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	879					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGGCTGAATCGCACAGGTGA	0.647000													11	15					0	0	0.001855	0	0
CAMK2G	818	broad.mit.edu	37	10	75607051	75607051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:75607051G>A	ENST00000423381.1	-	10	874	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	CAMK2G_ENST00000372765.1_Nonsense_Mutation_p.Q251*|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000322680.3_Nonsense_Mutation_p.Q251*|CAMK2G_ENST00000305762.7_Nonsense_Mutation_p.Q251*|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000394762.2_Nonsense_Mutation_p.Q251*|CAMK2G_ENST00000322635.3_Nonsense_Mutation_p.Q251*|CAMK2G_ENST00000351293.3_Nonsense_Mutation_p.Q251*	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	251	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GTCAGCATCTGGTTGATCAAG	0.512000													38	4					0	0	0.005524	0	0
EXOC7	23265	broad.mit.edu	37	17	74081767	74081767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:74081767G>A	ENST00000607838.1	-	15	1770	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	EXOC7_ENST00000411744.2_Missense_Mutation_p.S528F|EXOC7_ENST00000405575.4_Missense_Mutation_p.S559F|EXOC7_ENST00000589210.1_Missense_Mutation_p.S536F|EXOC7_ENST00000335146.7_Missense_Mutation_p.S587F|EXOC7_ENST00000332065.5_Missense_Mutation_p.S505F|EXOC7_ENST00000467929.2_Missense_Mutation_p.S508F	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	587					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)			CTTCTCCAGGGACTTGAGGAT	0.587000													63	65					0	0	0.014410	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647325	34647325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:34647325G>A	ENST00000591619.1	+	7	1823	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	KIAA1328_ENST00000280020.5_Missense_Mutation_p.G350E|KIAA1328_ENST00000435985.2_Missense_Mutation_p.G66E|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G242E|KIAA1328_ENST00000586135.1_Missense_Mutation_p.G66E|KIAA1328_ENST00000586501.1_Missense_Mutation_p.G66E			Q86T90	K1328_HUMAN	KIAA1328	350										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CATGGTGGTGGGGCACTGCAA	0.458000													19	24					0	0	0.007413	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389555	1389555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:1389555C>T	ENST00000324803.4	+	1	4216	c.1256C>T	c.(1255-1257)aCc>aTc	p.T419I		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	419	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GACGCTGTTACCGTACATTCT	0.488000													46	33					0	0	0.013114	0	0
MXRA5	25878	broad.mit.edu	37	X	3239210	3239210	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:3239210T>A	ENST00000217939.6	-	5	4670	c.4516A>T	c.(4516-4518)Acc>Tcc	p.T1506S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1506						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGTGGTGGTTTGTCCCAAA	0.473000													61	6					0	0	0.014410	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792266	124792266	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:124792266C>T	ENST00000334705.7	+	7	837	c.591C>T	c.(589-591)atC>atT	p.I197I	FAM91A1_ENST00000521166.1_Silent_p.I197I	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	197										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATAAGATCATCGATTCAGGCC	0.323000													23	42					0	0	0.003954	0	0
TEAD4	7004	broad.mit.edu	37	12	3129827	3129827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:3129827C>T	ENST00000359864.2	+	9	801	c.611C>T	c.(610-612)cCa>cTa	p.P204L	TEAD4_ENST00000358409.2_Missense_Mutation_p.P161L|TEAD4_ENST00000397122.2_Missense_Mutation_p.P75L	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	204					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GGGCCCGCCCCATCGCCCTCT	0.667000													41	54					0	0	0.009718	0	0
CA2	760	broad.mit.edu	37	8	86386594	86386594	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:86386594G>A	ENST00000285379.5	+	4	623	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	131					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GGGATTTTGGGAAAGCTGTGC	0.393000													45	141					0	0	0.014410	0	0
FAM127C	441518	broad.mit.edu	37	X	134156473	134156473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:134156473T>C	ENST00000391440.1	-	1	86	c.17A>G	c.(16-18)cAg>cGg	p.Q6R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	6										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					CTTCATCAGCTGCACTCGACC	0.687000													29	46					0	0	0.009535	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560428	101560428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:101560428C>T	ENST00000536262.2	-	12	1928	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	457					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTCCAATTCCAACCCATAG	0.393000													20	14					0	0	0.008871	0	0
STAU1	6780	broad.mit.edu	37	20	47740959	47740959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:47740959C>T	ENST00000371828.3	-	7	1037	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	STAU1_ENST00000371856.2_Missense_Mutation_p.E259K|STAU1_ENST00000371802.1_Missense_Mutation_p.E184K|STAU1_ENST00000371792.1_Missense_Mutation_p.E178K|STAU1_ENST00000347458.5_Missense_Mutation_p.E178K|STAU1_ENST00000360426.4_Missense_Mutation_p.E178K|STAU1_ENST00000340954.7_Missense_Mutation_p.E178K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	259	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTTACTCGTTCAACTGCAGGC	0.433000													155	211					0	0	0.014410	0	0
SLC10A5	347051	broad.mit.edu	37	8	82607038	82607038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:82607038G>A	ENST00000518568.1	-	1	1371	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	57						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGGTGGCTGGAATTAGGCCG	0.353000													32	72					0	0	0.010818	0	0
AIP	9049	broad.mit.edu	37	11	67256900	67256900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:67256900C>T	ENST00000279146.3	+	3	560	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	148					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CCCCCAGCCCCTCATCTTCCA	0.682000									Familial Isolated Pituitary Adenoma				16	56					0	0	0.004007	0	0
MMP1	4312	broad.mit.edu	37	11	102666008	102666008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:102666008G>A	ENST00000315274.6	-	6	863	c.796C>T	c.(796-798)Cct>Tct	p.P266S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	266	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GGCTGGACAGGATTTTGGGAA	0.403000													13	3					0	0	0.002450	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214725	3214725	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:3214725G>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TGCCCTGGTGGGAATTTGCTG	0.527000													5	6					0	0	0.000602	0	0
FLAD1	80308	broad.mit.edu	37	1	154960824	154960824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154960824G>A	ENST00000368433.1	+	2	959	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	FLAD1_ENST00000405236.2_Missense_Mutation_p.E107K|FLAD1_ENST00000368432.1_Missense_Mutation_p.E109K|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.E206K|FLAD1_ENST00000368431.3_Missense_Mutation_p.E107K|FLAD1_ENST00000315144.10_Missense_Mutation_p.E109K|FLAD1_ENST00000487371.1_3'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	206					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCAAGTTGGAAGCAGCCAC	0.582000													58	80					0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128487776	128487776	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:128487776G>A	ENST00000325888.8	+	25	4575	c.4314G>A	c.(4312-4314)aaG>aaA	p.K1438K	FLNC_ENST00000346177.6_Silent_p.K1438K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1438					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCAGTGAAGGATGTGGTGG	0.637000													53	140					0	0	0.014410	0	0
SCAP	22937	broad.mit.edu	37	3	47459207	47459207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47459207G>A	ENST00000265565.5	-	17	2969	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	SCAP_ENST00000441517.2_Missense_Mutation_p.P597S|SCAP_ENST00000545718.1_Missense_Mutation_p.P460S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	853	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTCTCAGGGGAGGGCTGTCC	0.662000													39	2					0	0	0.006230	0	0
DSG3	1830	broad.mit.edu	37	18	29041250	29041250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:29041250G>A	ENST00000257189.4	+	8	957	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	292	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAGTAACAGATTTGGATGA	0.338000													18	34					0	0	0.007413	0	0
CDH4	1002	broad.mit.edu	37	20	60485588	60485588	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:60485588C>T	ENST00000360469.5	+	9	1387	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	CDH4_ENST00000543233.1_Silent_p.I359I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	433	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGCATCATCAGTGGGGATC	0.602000													23	21					0	0	0.003954	0	0
SKIL	6498	broad.mit.edu	37	3	170108058	170108058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:170108058G>A	ENST00000458537.3	+	4	2186	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T	SKIL_ENST00000259119.4_Missense_Mutation_p.A493T|SKIL_ENST00000426052.2_Missense_Mutation_p.A473T|SKIL_ENST00000413427.2_Missense_Mutation_p.A447T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	493					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATCTGAGTCTGCCACTTGCAA	0.368000													28	37					0	0	0.007291	0	0
TMEM181	57583	broad.mit.edu	37	6	158957847	158957847	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:158957847C>T	ENST00000367090.3	+	1	380	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	123					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GGGAAGCGTACCGCGAGCTCA	0.726000													38	3					0	0	0.011902	0	0
SHANK2	22941	broad.mit.edu	37	11	70332945	70332945	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:70332945C>T	ENST00000338508.4	-	32	3455	c.3456G>A	c.(3454-3456)agG>agA	p.R1152R	SHANK2_ENST00000449833.2_Silent_p.R556R|SHANK2_ENST00000423696.2_Silent_p.R772R|SHANK2_ENST00000409161.1_Silent_p.R555R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	772					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTCGGGCTCCCTGGGCGTGG	0.677000													20	60					0	0	0.008871	0	0
PPP1R2	5504	broad.mit.edu	37	3	195256633	195256633	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:195256633A>G	ENST00000328432.3	-	2	552	c.192T>C	c.(190-192)ggT>ggC	p.G64G		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	64					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTTTCATTAAACCATAGTCTT	0.363000													30	38					0	0	0.012213	0	0
KIF4B	285643	broad.mit.edu	37	5	154397004	154397004	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:154397004G>A	ENST00000435029.4	+	1	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				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)			TCCCAGAGTCGAAACATGGAG	0.507000													15	1					0	0	0.004990	0	0
PEAK1	79834	broad.mit.edu	37	15	77450944	77450944	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:77450944T>C	ENST00000560626.2	-	5	3707	c.3232A>G	c.(3232-3234)Aca>Gca	p.T1078A	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1078A			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1078					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GACAATGCTGTTGTGACTGAA	0.468000													37	52					0	0	0.004878	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706538	33706538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:33706538G>A	ENST00000269187.5	-	2	646	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.L145F	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	145						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTGGGCAAAGAGCTTTTCGC	0.473000													34	24					0	0	0.010818	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704373	60704373	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:60704373C>A	ENST00000005286.4	+	11	3222	c.3069C>A	c.(3067-3069)agC>agA	p.S1023R	TMEM132A_ENST00000453848.2_Missense_Mutation_p.S1022R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	1022	Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCCGGGGCAGCTCCTGACCCT	0.652000													20	19					1.64113e-05	2.26296e-05	0.010504	1	0
DNER	92737	broad.mit.edu	37	2	230231656	230231656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:230231656C>T	ENST00000341772.4	-	12	2169	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	679	Interaction with AP1G1 and somatodendritic targeting (By similarity).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.E679*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTGTAGAACTCCTCATAGGCT	0.582000													40	3					0	0	0.005524	0	0
OR5M11	219487	broad.mit.edu	37	11	56310122	56310122	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:56310122G>A	ENST00000528616.2	-	1	635	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGGAGAGGTTGAAGCCAGCAG	0.493000													17	40					0	0	0.006122	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735102	56735102	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56735102G>A	ENST00000587340.1	-	5	1181	c.486C>T	c.(484-486)tcC>tcT	p.S162S	ZSCAN5A_ENST00000592355.1_Silent_p.S162S|ZSCAN5A_ENST00000391713.1_Silent_p.S162S|ZSCAN5A_ENST00000587492.1_Silent_p.S16S|ZSCAN5A_ENST00000254165.3_Silent_p.S45S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCGTTGGCTGGACACGTCTT	0.587000													19	49					0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168102065	168102065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:168102065G>A	ENST00000409195.1	+	9	4252	c.4163G>A	c.(4162-4164)aGa>aAa	p.R1388K	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1388K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1166K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1213					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTCTGTCAGATACAGATTT	0.348000													33	35					0	0	0.005524	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55890126C>T	ENST00000313472.3	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000													102	227					0	0	0.014410	0	0
CDKL2	8999	broad.mit.edu	37	4	76529088	76529088	+	Silent	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:76529088A>C	ENST00000429927.2	-	6	1411	c.708T>G	c.(706-708)gcT>gcG	p.A236A	CDKL2_ENST00000307465.4_Silent_p.A236A	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	236	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCTTACTCCAGCAAACACAG	0.368000													24	58					0	0	0.014323	0	0
GRIK3	2899	broad.mit.edu	37	1	37271923	37271923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:37271923G>A	ENST00000373091.3	-	14	2112	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	GRIK3_ENST00000373093.4_Missense_Mutation_p.S699F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	699					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAGATCTTGGATTTCTGGGC	0.602000													12	0					0	0	0.013537	0	0
LIG1	3978	broad.mit.edu	37	19	48657186	48657186	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:48657186G>A	ENST00000263274.7	-	6	828	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Silent_p.L107L|LIG1_ENST00000536218.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	137					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tgctcttccAGGACTTCCTGA	0.582000								Nucleotide excision repair (NER)					9	8					0	0	0.004482	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	G	A	rs145666754		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:19553789G>A	ENST00000409832.3	+	1	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	125										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000													70	667					0	0	0.014410	0	0
PHC1	1911	broad.mit.edu	37	12	9083324	9083324	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:9083324G>A	ENST00000433083.2	+	6	916	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PHC1_ENST00000543824.1_Silent_p.G302G|PHC1_ENST00000544916.1_Silent_p.G302G|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_Silent_p.G81G			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	302					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGGGTGGTGGGAGCTGTCCCA	0.607000													8	4					0	0	0.003080	0	0
VAT1L	57687	broad.mit.edu	37	16	77850854	77850854	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:77850854G>A	ENST00000302536.2	+	2	423	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	90							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGCGACAAGGGAATATTGACA	0.448000													34	43					0	0	0.003271	0	0
ACVRL1	94	broad.mit.edu	37	12	52312839	52312839	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:52312839G>A	ENST00000550683.1	+	8	1460	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	ACVRL1_ENST00000419526.2_Silent_p.K265K|ACVRL1_ENST00000388922.4_Silent_p.K439K	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	439	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGGACATGAAGAAGGTGGTGT	0.577000													694	53					0	0	0.014410	0	0
KATNB1	10300	broad.mit.edu	37	16	57775704	57775704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:57775704C>T	ENST00000379661.3	+	3	538	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	49	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AACCTGTGGTCCATCAACAAG	0.662000													18	22					0	0	0.004990	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563136	60563136	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:60563136T>G	ENST00000400316.4	+	6	2581	c.800T>G	c.(799-801)tTg>tGg	p.L267W	PHLPP1_ENST00000262719.5_Missense_Mutation_p.L779W	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	779					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCCGAAGTATTGGAGAAATTG	0.408000													96	10					0	0	0.014410	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:92364064C>T	ENST00000276609.3	+	10	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.F389F|SLC26A7_ENST00000309536.2_Silent_p.F389F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	389						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGCATTTTCGTCCTTATAG	0.353000													35	86					0	0	0.003755	0	0
DLL3	10683	broad.mit.edu	37	19	39994810	39994810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39994810C>T	ENST00000205143.4	+	5	759	c.752C>T	c.(751-753)cCt>cTt	p.P251L	DLL3_ENST00000356433.5_Missense_Mutation_p.P251L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	251					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCACGGTCCCTGTCTCCACC	0.677000													20	41					0	0	0.010504	0	0
GALNT13	114805	broad.mit.edu	37	2	155115593	155115593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:155115593G>A	ENST00000392825.3	+	8	1484	c.917G>A	c.(916-918)gGa>gAa	p.G306E	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.G306E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	306	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GAAGAGATAGGAACTTACGAT	0.333000													55	54					0	0	0.014410	0	0
GDAP2	54834	broad.mit.edu	37	1	118426147	118426147	+	Missense_Mutation	SNP	C	C	T	rs148217136	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:118426147C>T	ENST00000369443.4	-	11	1459	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.D404N	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	404	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTCAGGAAGTCGGAGTCCAGG	0.353000													19	2					0	0	0.003954	0	0
CRX	1406	broad.mit.edu	37	19	48342936	48342936	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:48342936C>T	ENST00000221996.7	+	4	818	c.612C>T	c.(610-612)tcC>tcT	p.S204S	CRX_ENST00000539067.1_Silent_p.S204S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	204					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGCTCTTCCCCCTCCGCCT	0.677000													69	33					0	0	0.014410	0	0
RIN2	54453	broad.mit.edu	37	20	19977443	19977443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:19977443G>A	ENST00000255006.6	+	11	2617	c.2468G>A	c.(2467-2469)cGg>cAg	p.R823Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.R341Q	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	774	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGGCACAAACGGAGAACCACC	0.557000													4	7					0	0	0.009096	0	0
IKZF2	22807	broad.mit.edu	37	2	213872482	213872482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:213872482C>T	ENST00000457361.1	-	8	1351	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Missense_Mutation_p.E395K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E401K|IKZF2_ENST00000374319.4_Missense_Mutation_p.E369K|IKZF2_ENST00000374327.4_Missense_Mutation_p.E250K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E323K|IKZF2_ENST00000421754.2_Missense_Mutation_p.E321K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCTCTCTTTCCTGGGGTCGA	0.498000													86	89					0	0	0.014410	0	0
RLTPR	146206	broad.mit.edu	37	16	67690334	67690334	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:67690334C>T	ENST00000334583.6	+	35	4150	c.3822C>T	c.(3820-3822)tcC>tcT	p.S1274S	RLTPR_ENST00000545661.1_Silent_p.S1238S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1274										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGACCCTTCCTGCAGACCTG	0.617000													11	19					0	0	0.008291	0	0
CALB1	793	broad.mit.edu	37	8	91090675	91090675	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:91090675C>T	ENST00000265431.3	-	3	338	c.156_splice	c.e3-1	p.E53_splice	CALB1_ENST00000518457.1_5'UTR	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	53	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GGTGATAACTCCTAAAATTAT	0.308000													30	74					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179404420	179404420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179404420C>T	ENST00000589042.1	-	352	98596	c.98372G>A	c.(98371-98373)aGg>aAg	p.R32791K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31150K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23851K|TTN_ENST00000460472.2_Missense_Mutation_p.R23726K|TTN_ENST00000342992.6_Missense_Mutation_p.R30223K|TTN_ENST00000342175.6_Missense_Mutation_p.R23918K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31150	Ig-like 145.						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)			TCCTATCACCCTGACCTTGAT	0.498000													57	68					0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866371	131866371	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131866371C>T	ENST00000359827.3	-	18	4223	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	PLXNA4_ENST00000321063.4_Silent_p.E1087E			Q9HCM2	PLXA4_HUMAN	plexin A4	1087	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTTCAGAACCTCACAGATCT	0.597000													15	44					0	0	0.004007	0	0
OTUD4	54726	broad.mit.edu	37	4	146071980	146071980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:146071980G>A	ENST00000454497.2	-	12	988	c.851C>T	c.(850-852)tCc>tTc	p.S284F	OTUD4_ENST00000447906.2_Missense_Mutation_p.S349F|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	348							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)					TCCAGAAGTGGAAGGTTTTTT	0.423000													16	22					0	0	0.004990	0	0
PROKR1	10887	broad.mit.edu	37	2	68882139	68882139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:68882139G>A	ENST00000303786.3	+	3	1033	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	PROKR1_ENST00000394342.2_Missense_Mutation_p.V205I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	205						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCGAGACGGTCCTCGTCAT	0.547000													68	77					0	0	0.014410	0	0
OR4A15	81328	broad.mit.edu	37	11	55136129	55136129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55136129G>A	ENST00000314706.3	+	1	770	c.770G>A	c.(769-771)aGt>aAt	p.S257N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGACTCAGAGTTTGGAAGGG	0.443000													22	78					0	0	0.012319	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172358	47172358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:47172358G>A	ENST00000447411.1	-	10	1125	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	SLC38A4_ENST00000266579.4_Missense_Mutation_p.H307Y	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	307					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCACTGTCATGAAGAGAGCCC	0.478000													18	33					0	0	0.007413	0	0
SMC5	23137	broad.mit.edu	37	9	72933761	72933761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:72933761G>T	ENST00000361138.5	+	15	2090	c.2032G>T	c.(2032-2034)Gaa>Taa	p.E678*		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	678					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCTTACGTGAAACAAGCAA	0.323000													11	8					5.16669e-11	7.19333e-11	0.010729	1	0
COL4A3	1285	broad.mit.edu	37	2	228118045	228118045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:228118045G>A	ENST00000396578.3	+	12	841	c.679G>A	c.(679-681)Gga>Aga	p.G227R	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	227	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGACATAAAGGAGAGCGGGT	0.348000													59	3					0	0	0.014410	0	0
ILDR1	286676	broad.mit.edu	37	3	121712795	121712795	+	Silent	SNP	G	G	A	rs149548365	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121712795G>A	ENST00000273691.3	-	6	774	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ILDR1_ENST00000462014.1_Silent_p.L235L|ILDR1_ENST00000344209.5_Silent_p.L267L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.L178L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	267						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCATCTGCGGGAGGCTGGACG	0.512000													31	30					0	0	0.009535	0	0
MYH13	8735	broad.mit.edu	37	17	10216538	10216538	+	Missense_Mutation	SNP	G	G	T	rs62060459		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10216538G>T	ENST00000418404.3	-	29	4281	c.4118C>A	c.(4117-4119)gCc>gAc	p.A1373D	MYH13_ENST00000570743.1_Missense_Mutation_p.A1373D|MYH13_ENST00000252172.4_Missense_Mutation_p.A1373D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1373					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCCACTGGGCAACCTCACT	0.637000													46	136					1.02067e-35	1.44197e-35	0.014410	1	0
PDE1A	5136	broad.mit.edu	37	2	183066463	183066463	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:183066463T>G	ENST00000435564.1	-	9	1204	c.1004A>C	c.(1003-1005)cAc>cCc	p.H335P	PDE1A_ENST00000409365.1_Missense_Mutation_p.H319P|PDE1A_ENST00000536095.1_Missense_Mutation_p.H231P|PDE1A_ENST00000351439.5_Missense_Mutation_p.H319P|PDE1A_ENST00000456212.1_Missense_Mutation_p.H335P|PDE1A_ENST00000358139.2_Missense_Mutation_p.H335P|PDE1A_ENST00000331935.6_Missense_Mutation_p.H335P|PDE1A_ENST00000410103.1_Missense_Mutation_p.H335P|PDE1A_ENST00000346717.4_Missense_Mutation_p.H301P	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	335	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ttgctggaAGTGACCTGACAT	0.353000													16	18					0	0	0.003163	0	0
GALNT13	114805	broad.mit.edu	37	2	155099233	155099233	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:155099233G>A	ENST00000392825.3	+	6	1068	c.501G>A	c.(499-501)gaG>gaA	p.E167E	GALNT13_ENST00000409237.1_Silent_p.E167E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	167	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGACATTAGAGAATTACGTGA	0.338000													16	19					0	0	0.007413	0	0
BIRC7	79444	broad.mit.edu	37	20	61869965	61869965	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:61869965C>T	ENST00000217169.3	+	4	790	c.577_splice	c.e4+1	p.S192_splice	BIRC7_ENST00000395306.1_Splice_Site_p.S105_splice|BIRC7_ENST00000342412.6_Splice_Site_p.S192_splice	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	192					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TGGCCCCCTCCGGTGAGAGCT	0.662000													48	63					0	0	0.014410	0	0
OR10G7	390265	broad.mit.edu	37	11	123908973	123908973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:123908973C>T	ENST00000330487.5	-	1	744	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAAAGGACCACGATACAGTGG	0.567000													12	4					0	0	0.010729	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918210	111918210	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:111918210T>A	ENST00000305815.5	-	20	2733	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L779F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	827					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAATTCCTTTTAAGCCAAAAG	0.313000													48	75					0	0	0.014410	0	0
LATS2	26524	broad.mit.edu	37	13	21555718	21555718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:21555718C>T	ENST00000382592.4	-	6	2957	c.2552G>A	c.(2551-2553)gGg>gAg	p.G851E	LATS2_ENST00000542899.1_Missense_Mutation_p.G851E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	851	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CAGCCTGTCCCCACACCGACA	0.582000													14	33					0	0	0.001855	0	0
CXorf61	203413	broad.mit.edu	37	X	115592967	115592967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:115592967C>T	ENST00000371894.4	-	2	429	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	95						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AGAGTATGTTCCAGTTCAACC	0.433000													90	5					0	0	0.014410	0	0
ZNF607	84775	broad.mit.edu	37	19	38200705	38200705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:38200705C>T	ENST00000355202.4	-	3	623	c.28G>A	c.(28-30)Gat>Aat	p.D10N	ZNF607_ENST00000395835.3_Missense_Mutation_p.D10N|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.D10N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATGGCCACATCCCCGAATGTT	0.488000													20	28					0	0	0.014323	0	0
SYN2	6854	broad.mit.edu	37	3	12211285	12211285	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:12211285G>A	ENST00000432424.2	+	0	1359							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CCACTGATTGGGGAACATCAG	0.527000													165	211					0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:73015526G>A	ENST00000261180.4	+	15	2631	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	845					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCAGCAACAGGAACAGGTAAA	0.393000													10	22					0	0	0.010729	0	0
SORL1	6653	broad.mit.edu	37	11	121478879	121478879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:121478879G>A	ENST00000260197.7	+	38	5362	c.5233G>A	c.(5233-5235)Gga>Aga	p.G1745R	SORL1_ENST00000525532.1_Missense_Mutation_p.G689R|SORL1_ENST00000532694.1_Missense_Mutation_p.G591R|SORL1_ENST00000534286.1_Missense_Mutation_p.G655R|SORL1_ENST00000527934.1_Missense_Mutation_p.G360R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1745					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACCATAAAAGGAAAAGGTAA	0.368000													11	1					0	0	0.008291	0	0
TRPA1	8989	broad.mit.edu	37	8	72963099	72963099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:72963099C>T	ENST00000262209.4	-	15	2026	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	607						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTAAGACATTCATCCCATCTG	0.338000													46	24					0	0	0.014410	0	0
SYT1	6857	broad.mit.edu	37	12	79679683	79679683	+	Missense_Mutation	SNP	G	G	A	rs138582600		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:79679683G>A	ENST00000261205.4	+	5	940	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SYT1_ENST00000393240.3_Missense_Mutation_p.E95K|SYT1_ENST00000457153.2_Missense_Mutation_p.E95K|SYT1_ENST00000552744.1_Missense_Mutation_p.E95K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	95					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.E95K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGGGAAAGGAAAAAGGAGG	0.348000													14	13					0	0	0.002450	0	0
TRPM1	4308	broad.mit.edu	37	15	31362066	31362066	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:31362066G>A	ENST00000559179.1	-	3	514	c.381C>T	c.(379-381)gcC>gcT	p.A127A	TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0					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)		CAAGCCTCATGGCTAAAAGCC	0.453000													16	18					0	0	0.003163	0	0
ADAM18	8749	broad.mit.edu	37	8	39495127	39495127	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:39495127C>T	ENST00000265707.5	+	9	777	c.732C>T	c.(730-732)tcC>tcT	p.S244S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.S220S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	244	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACCAGATTTCCACCAGTGGGG	0.368000													10	29					0	0	0.006214	0	0
TRIM68	55128	broad.mit.edu	37	11	4621725	4621725	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4621725G>A	ENST00000300747.5	-	7	1528	c.1239C>T	c.(1237-1239)atC>atT	p.I413I		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	413	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAAGGACAGGATTGGGTACT	0.537000													24	54					0	0	0.007291	0	0
FAM20A	54757	broad.mit.edu	37	17	66538260	66538260	+	Silent	SNP	C	C	T	rs150508189	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:66538260C>T	ENST00000592554.1	-	7	1697	c.975G>A	c.(973-975)acG>acA	p.T325T	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	325						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CAGCATACTCCGTCTTGCACA	0.607000													12	48					0	0	0.010729	0	0
FAT4	79633	broad.mit.edu	37	4	126408600	126408600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126408600C>T	ENST00000394329.3	+	16	12930	c.12917C>T	c.(12916-12918)aCt>aTt	p.T4306I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2547I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4306	Laminin G-like 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						CACTGGCACACTTTTCTAATT	0.398000													17	23					0	0	0.004007	0	0
OTOP2	92736	broad.mit.edu	37	17	72927228	72927228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:72927228C>T	ENST00000331427.4	+	6	1590	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F	OTOP2_ENST00000580223.1_Missense_Mutation_p.L500F	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	500						integral to membrane		p.L500I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCTCTGTTTCTCCTACTCTG	0.557000													41	64					0	0	0.009718	0	0
FAT4	79633	broad.mit.edu	37	4	126372388	126372388	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126372388T>C	ENST00000394329.3	+	9	10230	c.10217T>C	c.(10216-10218)cTa>cCa	p.L3406P	FAT4_ENST00000335110.5_Missense_Mutation_p.L1704P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3406	Cadherin 33.				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						ATTTTTACTCTAAACATCTAC	0.473000													27	49					0	0	0.005443	0	0
STK33	65975	broad.mit.edu	37	11	8435091	8435091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:8435091C>T	ENST00000447869.1	-	11	2213	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.G245E|STK33_ENST00000315204.1_Missense_Mutation_p.G432E|STK33_ENST00000534493.1_Missense_Mutation_p.G391E|STK33_ENST00000396672.1_Missense_Mutation_p.G432E|STK33_ENST00000396673.1_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	432						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGGGACATTTCCCCAGGGTTG	0.413000													65	159					0	0	0.014410	0	0
POM121C	100101267	broad.mit.edu	37	7	75050950	75050950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:75050950G>A	ENST00000453279.2	-	13	3449	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	POM121C_ENST00000257665.5_Missense_Mutation_p.T1104I	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1104	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GAAAGCTCCGGTGGTGGCGCT	0.652000													26	28					0	0	0.003271	0	0
MYO1G	64005	broad.mit.edu	37	7	45015141	45015141	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:45015141T>C	ENST00000258787.7	-	4	642	c.506A>G	c.(505-507)aAc>aGc	p.N169S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	169	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAAGTCAAAGTTGATGTCCAT	0.592000													25	32					0	0	0.003954	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987619	154987619	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154987619G>C	ENST00000368426.3	+	3	620	c.483G>C	c.(481-483)caG>caC	p.Q161H	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.Q161H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.Q195H|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.Q161H|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	161					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCCGCCAGTATCTGGAGG	0.632000													21	72					0	0	0.004656	0	0
SYT5	6861	broad.mit.edu	37	19	55687136	55687136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55687136C>T	ENST00000354308.3	-	5	850	c.481G>A	c.(481-483)Gag>Aag	p.E161K	SYT5_ENST00000590851.1_Missense_Mutation_p.E158K|SYT5_ENST00000537500.1_Missense_Mutation_p.E161K|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	161	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGGTCTCGTACCGCCTC	0.607000													64	26					0	0	0.014410	0	0
WDR35	57539	broad.mit.edu	37	2	20130310	20130310	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:20130310T>C	ENST00000345530.3	-	26	3116	c.3001A>G	c.(3001-3003)Act>Gct	p.T1001A	WDR35_ENST00000281405.4_Missense_Mutation_p.T990A|WDR35_ENST00000416055.2_Missense_Mutation_p.T474A	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1001										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCAGAAGTGGCCTACGAG	0.453000													29	46					0	0	0.010818	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011452	21011452	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:21011452C>T	ENST00000381545.3	+	5	525	c.306C>T	c.(304-306)ctC>ctT	p.L102L	LST3_ENST00000540229.1_Silent_p.L102L|SLCO1B7_ENST00000554957.1_Silent_p.L102L|SLCO1B3_ENST00000261196.2_Silent_p.L102L|SLCO1B3_ENST00000553473.1_Silent_p.L102L|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000381541.3_Silent_p.L102L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	102					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTGGTTGTCTCCTTATGGGAA	0.323000													51	52					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	71015379	71015379	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:71015379G>A	ENST00000393567.2	-	29	4575	c.4425C>T	c.(4423-4425)atC>atT	p.I1475I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1475										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGGCGATCTGTATCT	0.478000													78	65					0	0	0.014410	0	0
GABRA4	2557	broad.mit.edu	37	4	46967121	46967121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:46967121G>A	ENST00000264318.3	-	8	1982	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F		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	334					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)	AACTCGATAAGGGCCGAAAAT	0.463000													44	26					0	0	0.009718	0	0
SSTR4	6754	broad.mit.edu	37	20	23016462	23016462	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:23016462C>T	ENST00000255008.3	+	1	406	c.342C>T	c.(340-342)ttC>ttT	p.F114F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	114					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACTGGCCCTTCGGCTCCGTGC	0.662000													75	65					0	0	0.014410	0	0
AOAH	313	broad.mit.edu	37	7	36588261	36588261	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:36588261C>A	ENST00000431169.1	-	15	1390	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	AOAH_ENST00000258749.5_Missense_Mutation_p.A364S|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.A332S|AOAH_ENST00000538464.1_Missense_Mutation_p.A86S	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	364					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATAACGATGGCGGGATAGTCC	0.438000													17	68					8.28177e-16	1.16005e-15	0.007413	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458543	45458543	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:45458543C>T	ENST00000548424.1	+	0	448																											AACGAGTTTCCTTTACAGGTC	0.488000													14	19					0	0	0.004007	0	0
ADAM11	4185	broad.mit.edu	37	17	42854579	42854579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42854579C>T	ENST00000200557.6	+	21	1896	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	ADAM11_ENST00000535346.1_Missense_Mutation_p.T376M	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	576	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGGAGGGGACGGAGCGTGGG	0.647000													25	14					0	0	0.006320	0	0
ZNF212	7988	broad.mit.edu	37	7	148950971	148950971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148950971G>A	ENST00000335870.2	+	5	1081	c.953G>A	c.(952-954)tGt>tAt	p.C318Y		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCCTACGAATGTTCTGAGTGT	0.577000													22	85					0	0	0.003330	0	0
OR8A1	390275	broad.mit.edu	37	11	124440223	124440223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:124440223G>A	ENST00000284287.3	+	1	331	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTCACTCATGGATCTCTGCTA	0.488000													42	11					0	0	0.014410	0	0
POM121C	100101267	broad.mit.edu	37	7	75050949	75050949	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:75050949G>A	ENST00000453279.2	-	13	3450	c.2586C>T	c.(2584-2586)acC>acT	p.T862T	POM121C_ENST00000257665.5_Silent_p.T1104T	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1104	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGAAAGCTCCGGTGGTGGCGC	0.652000													26	27					0	0	0.003271	0	0
DYSF	8291	broad.mit.edu	37	2	71766287	71766287	+	Splice_Site	SNP	G	G	A	rs141400095		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71766287G>A	ENST00000258104.3	+	16	1675	c.1397_splice	c.e16-1	p.W466_splice	DYSF_ENST00000409744.1_Splice_Site_p.W467_splice|DYSF_ENST00000410020.3_Splice_Site_p.W498_splice|DYSF_ENST00000413539.2_Splice_Site_p.W497_splice|DYSF_ENST00000409366.1_Splice_Site_p.W467_splice|DYSF_ENST00000409762.1_Splice_Site_p.W497_splice|DYSF_ENST00000409582.3_Splice_Site_p.W497_splice|DYSF_ENST00000410041.1_Splice_Site_p.W498_splice|DYSF_ENST00000394120.2_Splice_Site_p.W467_splice|DYSF_ENST00000409651.1_Splice_Site_p.W498_splice|DYSF_ENST00000429174.2_Splice_Site_p.W466_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	466	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W466*(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTGCTCTAGGGACCGCCTGA	0.557000													52	50					0	0	0.014410	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626444	80626444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:80626444G>A	ENST00000369816.4	-	6	1126	c.826C>T	c.(826-828)Cca>Tca	p.P276S		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	276					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CCAGCTTTTGGTTTCTTAGGC	0.378000													56	6					0	0	0.014410	0	0
ODC1	4953	broad.mit.edu	37	2	10584663	10584663	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:10584663A>C	ENST00000234111.4	-	4	723	c.213T>G	c.(211-213)aaT>aaG	p.N71K	ODC1_ENST00000446285.1_5'UTR|ODC1_ENST00000405333.1_Missense_Mutation_p.N71K	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	71					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTTTGCTATCATTACATTTGA	0.473000													36	37					0	0	0.005524	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373679	36373679	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:36373679G>A	ENST00000317020.6	-	4	1239	c.939C>T	c.(937-939)ccC>ccT	p.P313P	KIAA0895_ENST00000440378.1_Silent_p.P361P|KIAA0895_ENST00000453212.1_Silent_p.P119P|KIAA0895_ENST00000338533.5_Silent_p.P351P|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000297063.6_Silent_p.P364P|KIAA0895_ENST00000436884.1_Silent_p.P261P	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	364										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTCCTCTGTGGGATTATTTG	0.438000													23	75					0	0	0.012319	0	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:17211549G>A	ENST00000261381.6	-	11	2595	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	837					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000													36	55					0	0	0.004878	0	0
DNAH11	8701	broad.mit.edu	37	7	21781628	21781628	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21781628C>T	ENST00000328843.6	+	50	8050	c.8019C>T	c.(8017-8019)ttC>ttT	p.F2673F	DNAH11_ENST00000409508.3_Silent_p.F2666F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2673	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTCCATTTCCAACAGCAAG	0.398000									Kartagener syndrome				58	113					0	0	0.014410	0	0
ORC4	5000	broad.mit.edu	37	2	148731066	148731066	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:148731066A>T	ENST00000535373.1	-	4	517	c.85T>A	c.(85-87)Tgt>Agt	p.C29S	ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000392858.1_Missense_Mutation_p.C29S|ORC4_ENST00000264169.2_Missense_Mutation_p.C29S|ORC4_ENST00000392857.4_Missense_Mutation_p.C29S|ORC4_ENST00000542387.1_5'UTR	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	29					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTCTGACGACAAAATCTTTCA	0.308000													32	40					0	0	0.004878	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645816	20645816	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20645816C>T	ENST00000428453.1	-	0	2949																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGAGGGTGCCGCACACCTGC	0.627000													7	12					0	0	0.001984	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911637	39911637	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39911637G>A	ENST00000409794.3	+	14	2297		c.e14+1		PLEKHG2_ENST00000409797.2_Splice_Site|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000378550.1_Splice_Site|PLEKHG2_ENST00000458508.2_Splice_Site	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCAGTCTGGTGAGCACTCA	0.657000													22	18					0	0	0.003330	0	0
TBK1	29110	broad.mit.edu	37	12	64858153	64858153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:64858153C>T	ENST00000331710.5	+	4	607	c.268C>T	c.(268-270)Cca>Tca	p.P90S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	90	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GGAATTTTGTCCATGTGGGAG	0.308000													32	25					0	0	0.003271	0	0
TLR2	7097	broad.mit.edu	37	4	154625968	154625968	+	Silent	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:154625968A>C	ENST00000260010.6	+	1	3317	c.1909A>C	c.(1909-1911)Agg>Cgg	p.R637R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	637					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta 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 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|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AGCTCCCAGCAGGAACATCTG	0.542000													14	15					0	0	0.002450	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965356	7965356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7965356G>A	ENST00000306708.6	+	3	2050	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	650						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GAGCACGTGCGGAAGCTCAGG	0.627000													5	16					0	0	0.001168	0	0
KCNA6	3742	broad.mit.edu	37	12	4919936	4919936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:4919936G>A	ENST00000433855.1	+	1	1595	c.729G>A	c.(727-729)atG>atA	p.M243I	KCNA6_ENST00000280684.3_Missense_Mutation_p.M243I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGGGAAATGGGGACCGGGG	0.547000										HNSCC(72;0.22)			42	94					0	0	0.014410	0	0
TRBV9	28586	broad.mit.edu	37	7	142240017	142240017	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142240017G>A	ENST00000390363.2	-	0	41																											CCCATGGCAGGATCTCCTAGC	0.517000													48	112					0	0	0.014410	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627172	108627172	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:108627172A>T	ENST00000264047.2	+	9	1874	c.1598A>T	c.(1597-1599)aAa>aTa	p.K533I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.K533I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.K428I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	533					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)	ATTCTTGTCAAAAATGAAAAT	0.368000													15	26					0	0	0.004007	0	0
TACR2	6865	broad.mit.edu	37	10	71174766	71174766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:71174766C>T	ENST00000373306.4	-	2	1065	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	174					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CACCCTGGTCCATGGTGACGG	0.642000													61	10					0	0	0.014410	0	0
SSTR2	6752	broad.mit.edu	37	17	71166320	71166320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166320C>T	ENST00000357585.2	+	2	1231	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.P288S	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	288					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGCCCCACCCCAGCCCTTAA	0.502000													50	58					0	0	0.014410	0	0
GPR158	57512	broad.mit.edu	37	10	25887673	25887673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:25887673C>T	ENST00000376351.3	+	11	3477	c.3118C>T	c.(3118-3120)Ccc>Tcc	p.P1040S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1040						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1040T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAAAAACCCCACTTTTTC	0.453000													30	10					0	0	0.009535	0	0
OR4K17	390436	broad.mit.edu	37	14	20586318	20586318	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20586318G>A	ENST00000315543.4	+	1	753	c.753G>A	c.(751-753)ctG>ctA	p.L251L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTACAGTCTGATCCTCATAA	0.423000													58	63					0	0	0.014410	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080695	79080695	+	Silent	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:79080695T>G	ENST00000388820.4	-	8	1410	c.1200A>C	c.(1198-1200)ggA>ggC	p.G400G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CATTGCCGCTTCCGTCATGCT	0.652000													71	81					0	0	0.014410	0	0
EN1	2019	broad.mit.edu	37	2	119604516	119604516	+	Silent	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:119604516T>G	ENST00000295206.6	-	1	738	c.228A>C	c.(226-228)ccA>ccC	p.P76P		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	76					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						gcggggggtgtggggggaggt	0.751000													4	7					0	0	0.000602	0	0
BMP1	649	broad.mit.edu	37	8	22058705	22058705	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:22058705A>G	ENST00000306349.8	+	16	2336	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAGAAACCGGACCCCCCAGTG	0.612000													79	73					0	0	0.014410	0	0
OR2L13	284521	broad.mit.edu	37	1	248263527	248263527	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:248263527C>A	ENST00000366478.2	+	3	1187	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	OR2L13_ENST00000358120.2_Missense_Mutation_p.L284I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TACCCCCATGCTCAATCCCAT	0.483000													12	70					5.50884e-06	7.60524e-06	0.013537	1	0
BSN	8927	broad.mit.edu	37	3	49690924	49690924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:49690924C>T	ENST00000296452.4	+	5	4049	c.3935C>T	c.(3934-3936)aCc>aTc	p.T1312I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1312					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCCTGGTACCAGTCCCACC	0.552000													48	10					0	0	0.014410	0	0
ROBO1	6091	broad.mit.edu	37	3	78766486	78766486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:78766486G>A	ENST00000436010.2	-	5	1736	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R247*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R247*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.R286*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	286	Ig-like C2-type 2.				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	p.R286R(4)|p.R263R(2)|p.R247R(2)		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)		GGGTCACCTCGGGCCTCACAT	0.428000													107	101					0	0	0.014410	0	0
GDA	9615	broad.mit.edu	37	9	74764524	74764524	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:74764524T>C	ENST00000358399.3	+	1	142	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	GDA_ENST00000238018.4_Missense_Mutation_p.F17L|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCGAGGGACGTTCGTCCACTC	0.701000													19	0					0	0	0.008871	0	0
NBEAP1	606	broad.mit.edu	37	15	20874840	20874840	+	RNA	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20874840A>C	ENST00000556948.1	-	0	408																											CAGGATTAATAACCCAGTAGT	0.353000													18	89					0	0	0.008871	0	0
OR5K3	403277	broad.mit.edu	37	3	98109668	98109668	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:98109668A>G	ENST00000383695.1	+	1	159	c.159A>G	c.(157-159)caA>caG	p.Q53Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATATAGAGCAACGTCTTCACA	0.408000													103	126					0	0	0.014410	0	0
FGFR2	2263	broad.mit.edu	37	10	123256163	123256163	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:123256163G>A	ENST00000358487.5	-	13	2018	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	FGFR2_ENST00000369059.1_Silent_p.P468P|FGFR2_ENST00000346997.2_Silent_p.P580P|FGFR2_ENST00000369060.4_Silent_p.P466P|FGFR2_ENST00000351936.6_Silent_p.P580P|FGFR2_ENST00000478859.1_Silent_p.P354P|FGFR2_ENST00000369061.4_Silent_p.P470P|FGFR2_ENST00000357555.5_Silent_p.P493P|FGFR2_ENST00000457416.2_Silent_p.P583P|FGFR2_ENST00000360144.3_Silent_p.P494P|FGFR2_ENST00000369056.1_Silent_p.P583P|FGFR2_ENST00000356226.4_Silent_p.P465P	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	582	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACTCCATCCCGGGTGGCCTCC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				122	11					0	0	0.014410	0	0
EMC10	284361	broad.mit.edu	37	19	50984008	50984008	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50984008C>T	ENST00000376918.3	+	5	619	c.573C>T	c.(571-573)acC>acT	p.T191T	EMC10_ENST00000334976.6_Silent_p.T191T|EMC10_ENST00000598585.1_Silent_p.T191T|CTD-2545M3.2_ENST00000598194.1_RNA	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		AGCCGCCCACCACAGCCCCAG	0.721000													11	5					0	0	0.008291	0	0
POLD1	5424	broad.mit.edu	37	19	50905516	50905516	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50905516C>G	ENST00000440232.2	+	6	697	c.644C>G	c.(643-645)gCg>gGg	p.A215G	POLD1_ENST00000595904.1_Missense_Mutation_p.A215G|POLD1_ENST00000599857.1_Missense_Mutation_p.A215G	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	215					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ATCACCGTGGCGCTGCCGCGC	0.706000								DNA polymerases (catalytic subunits)					36	18					0	0	0.004289	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:151114356C>T	ENST00000296550.7	+	3	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Missense_Mutation_p.R275C|DCLK2_ENST00000302176.8_Missense_Mutation_p.R275C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000													27	42					0	0	0.012213	0	0
COL22A1	169044	broad.mit.edu	37	8	139618637	139618637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:139618637G>A	ENST00000303045.6	-	58	4537	c.4091C>T	c.(4090-4092)cCc>cTc	p.P1364L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1344L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1364	Collagen-like 13.|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)			AGGCCCACGGGGACCCAGGAA	0.552000										HNSCC(7;0.00092)			5	27					0	0	0.000602	0	0
CIB3	117286	broad.mit.edu	37	19	16280480	16280480	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:16280480C>T	ENST00000269878.4	-	3	208	c.159G>A	c.(157-159)aaG>aaA	p.K53K	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	53							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGTAGGGCACCTTCACATCGG	0.552000													17	12					0	0	0.006122	0	0
PLXNA4	91584	broad.mit.edu	37	7	131829942	131829942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131829942C>T	ENST00000359827.3	-	29	6123	c.5161G>A	c.(5161-5163)Gat>Aat	p.D1721N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1721N			Q9HCM2	PLXA4_HUMAN	plexin A4	1721						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCTGCTCATCCAGGAAGTCA	0.562000													43	83					0	0	0.014410	0	0
GLRB	2743	broad.mit.edu	37	4	157999217	157999217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:157999217C>T	ENST00000264428.4	+	2	311	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GLRB_ENST00000512619.1_Missense_Mutation_p.S14F|GLRB_ENST00000541722.1_Missense_Mutation_p.S14F|GLRB_ENST00000509282.1_Missense_Mutation_p.S14F	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	14					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATTTTAATTTCCTTGTGGGTG	0.338000													5	15					0	0	0.000602	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857935	9857935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:9857935C>T	ENST00000396573.2	-	14	3775	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1156K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1156K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1156K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1156K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E999K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1156					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)	CGGAAGTTTTCACTGGGATCC	0.527000													79	107					0	0	0.014410	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085042	64085042	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:64085042G>A	ENST00000295902.6	-	8	2805	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S796S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	740						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTCCCTCCGGGACCCATGCC	0.597000													32	5					0	0	0.003271	0	0
GJD2	57369	broad.mit.edu	37	15	35045085	35045085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:35045085G>A	ENST00000290374.4	-	2	1036	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	187					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCTGAGCTTGGATTTTGATGC	0.488000													78	82					0	0	0.014410	0	0
CADM2	253559	broad.mit.edu	37	3	85984950	85984950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:85984950C>T	ENST00000383699.3	+	7	1361	c.734C>T	c.(733-735)cCt>cTt	p.P245L	CADM2_ENST00000405615.2_Missense_Mutation_p.P238L|CADM2_ENST00000407528.2_Missense_Mutation_p.P236L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	236	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCATCGACTCCTTTTCCACAA	0.299000													72	108					0	0	0.014410	0	0
OR2B6	26212	broad.mit.edu	37	6	27925668	27925668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:27925668C>T	ENST00000244623.1	+	1	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTTATATCATATGCTTTT	0.423000													62	154					0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92087396	92087396	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:92087396G>A	ENST00000298047.6	+	1	2135	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	FAT3_ENST00000409404.2_Silent_p.L706L|FAT3_ENST00000541502.1_Silent_p.L706L|FAT3_ENST00000525166.1_Silent_p.L556L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGGAAACTGAATCTGGAAG	0.403000										TCGA Ovarian(4;0.039)			282	185					0	0	0.014410	0	0
CARD11	84433	broad.mit.edu	37	7	2976723	2976723	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:2976723T>C	ENST00000396946.4	-	9	1692	c.1289A>G	c.(1288-1290)aAc>aGc	p.N430S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	430					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCTCCAGGTTGACGATGCA	0.622000			Mis		DLBCL								31	46					0	0	0.012213	0	0
SETD1A	9739	broad.mit.edu	37	16	30975992	30975992	+	Missense_Mutation	SNP	C	C	T	rs146035438		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30975992C>T	ENST00000262519.8	+	7	1615	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	310	Ser-rich.				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	p.S310F(1)		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						GATGCCTTTTCCCGCCGCCAC	0.602000													68	68					0	0	0.014410	0	0
SERPINA3	12	broad.mit.edu	37	14	95080941	95080941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:95080941G>A	ENST00000553947.1	+	5	1126	c.238G>A	c.(238-240)Gac>Aac	p.D80N	SERPINA3_ENST00000467132.1_Missense_Mutation_p.D55N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D55N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D55N|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	55					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGCCAACGTGGACTTCGCTTT	0.567000													51	90					0	0	0.014410	0	0
PDE1C	5137	broad.mit.edu	37	7	31890332	31890332	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:31890332G>A	ENST00000396184.3	-	9	978	c.774C>T	c.(772-774)atC>atT	p.I258I	PDE1C_ENST00000396182.2_Silent_p.I258I|PDE1C_ENST00000396191.1_Silent_p.I258I|PDE1C_ENST00000396193.1_Silent_p.I318I|PDE1C_ENST00000321453.7_Silent_p.I258I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	258	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATAGCAAAGATCTCCAGCT	0.448000													17	104					0	0	0.006122	0	0
NBEA	26960	broad.mit.edu	37	13	36202305	36202305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:36202305C>T	ENST00000400445.3	+	49	8071	c.7537C>T	c.(7537-7539)Cgt>Tgt	p.R2513C	NBEA_ENST00000379939.2_Missense_Mutation_p.R2510C|NBEA_ENST00000379922.3_Missense_Mutation_p.R70C|NBEA_ENST00000540320.1_Missense_Mutation_p.R2513C|NBEA_ENST00000537702.1_Missense_Mutation_p.R306C|NBEA_ENST00000310336.4_Missense_Mutation_p.R2513C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2513	BEACH.					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)		AGAAGCAGTTCGTGCTCTGAA	0.433000													8	27					0	0	0.004482	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669784	48669784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:48669784G>A	ENST00000358747.6	-	4	666	c.416C>T	c.(415-417)tCc>tTc	p.S139F	SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.S160F|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.S160F|SLC26A6_ENST00000395550.2_Missense_Mutation_p.S160F	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CGGGGCCAGGGATTCTGTCAC	0.607000													15	1					0	0	0.002450	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106878046	106878046	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106878046G>A	ENST00000390619.2	-	0	80																											AAGAACCACAGGTGCTTCATT	0.507000													17	23					0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82582200	82582200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:82582200C>T	ENST00000423517.2	-	5	8406	c.8069G>A	c.(8068-8070)gGt>gAt	p.G2690D	PCLO_ENST00000333891.8_Missense_Mutation_p.G2690D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2621					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						GCTGCTGAGACCAACACTAGG	0.413000													22	44					0	0	0.002780	0	0
PTX4	390667	broad.mit.edu	37	16	1536423	1536423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:1536423G>A	ENST00000440447.2	-	3	580	c.509C>T	c.(508-510)cCg>cTg	p.P170L	PTX4_ENST00000293922.1_Silent_p.T313T|PTX4_ENST00000447419.2_Silent_p.T318T			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CATTGTCCTCGGTGGCGTAGG	0.672000													48	45					0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634890	70634890	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:70634890G>A	ENST00000381269.2	-	2	1003	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	SLC8A3_ENST00000357887.3_Silent_p.L84L|SLC8A3_ENST00000534137.1_Silent_p.L84L|SLC8A3_ENST00000528359.1_Silent_p.L84L|SLC8A3_ENST00000356921.2_Silent_p.L84L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	84					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGTATATCAGGGCCACAAAA	0.502000													20	25					0	0	0.007413	0	0
LNX2	222484	broad.mit.edu	37	13	28136654	28136654	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:28136654A>G	ENST00000316334.3	-	5	1249	c.1120T>C	c.(1120-1122)Ttg>Ctg	p.L374L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	374	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TGGGCAGCCAACCCCCCTTCC	0.537000													33	178					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179582006	179582006	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179582006G>A	ENST00000589042.1	-	88	25679	c.25455C>T	c.(25453-25455)atC>atT	p.I8485I	TTN_ENST00000591111.1_Silent_p.I8168I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I7241I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8168	Ig-like 67.						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)			AAGTGATTTTGATTGGTGCAG	0.423000													40	40					0	0	0.005524	0	0
ZNF808	388558	broad.mit.edu	37	19	53058580	53058580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:53058580C>T	ENST00000359798.4	+	5	2591	c.2411C>T	c.(2410-2412)tCa>tTa	p.S804L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGCGTAATTCATACCTGGCA	0.403000													57	128					0	0	0.014410	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20389662G>A	ENST00000315915.4	+	1	922	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000													75	131					0	0	0.014410	0	0
KMT2D	8085	broad.mit.edu	37	12	49416071	49416071	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49416071G>A	ENST00000301067.7	-	52	16403	c.16404C>T	c.(16402-16404)ggC>ggT	p.G5468G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCTGGCAGGGCCGCCGGTCA	0.488000													16	5					0	0	0.004990	0	0
POTEE	445582	broad.mit.edu	37	2	132021420	132021420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:132021420C>T	ENST00000356920.5	+	15	2486	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	798	Actin-like.						ATP binding										GCGTGTGGCTCCCGAGGAGCA	0.587000													76	163					0	0	0.014410	0	0
FAM194A	131831	broad.mit.edu	37	3	150404122	150404122	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:150404122C>T	ENST00000295910.6	-	4	625	c.573G>A	c.(571-573)gaG>gaA	p.E191E	FAM194A_ENST00000491361.1_Silent_p.E45E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	191										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTCAGCTTTCTCTTTAGAGG	0.383000													35	40					0	0	0.006999	0	0
NPAP1	23742	broad.mit.edu	37	15	24921296	24921296	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:24921296C>T	ENST00000329468.2	+	1	756	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGCTGGCCATCAGGAAGACAC	0.672000													31	36					0	0	0.003755	0	0
LTBP3	4054	broad.mit.edu	37	11	65318909	65318909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:65318909G>A	ENST00000301873.5	-	10	1853	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	LTBP3_ENST00000536982.1_Missense_Mutation_p.P155S|LTBP3_ENST00000322147.4_Missense_Mutation_p.P529S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	529						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTGGCAGTTGGGTGGCTCTGC	0.652000													15	26					0	0	0.006122	0	0
GABRG1	2565	broad.mit.edu	37	4	46060350	46060350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:46060350C>T	ENST00000295452.4	-	7	967	c.800G>A	c.(799-801)aGc>aAc	p.S267N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	267					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATTCTTCTGCTCAGGTCAAA	0.308000													12	36					0	0	0.013537	0	0
KMT2D	8085	broad.mit.edu	37	12	49416070	49416070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49416070G>A	ENST00000301067.7	-	52	16404	c.16405C>T	c.(16405-16407)Cct>Tct	p.P5469S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACCTGGCAGGGCCGCCGGTC	0.493000													16	5					0	0	0.004990	0	0
RGPD3	653489	broad.mit.edu	37	2	107040744	107040744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:107040744C>T	ENST00000409886.3	-	20	3766	c.3679G>A	c.(3679-3681)Ggt>Agt	p.G1227S	RGPD3_ENST00000304514.7_Missense_Mutation_p.G1227S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1227					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCGGCCGCACCTGTACCTGAA	0.413000													175	230					0	0	0.014410	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290158	95290158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:95290158C>T	ENST00000271227.6	+	3	347	c.245C>T	c.(244-246)gCc>gTc	p.A82V	SLC44A3_ENST00000532427.1_Missense_Mutation_p.A34V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A46V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A34V|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A82V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A46V	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	82						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GTGGAAGGGGCCCCTCTTTCA	0.488000													60	5					0	0	0.014410	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589537	67589537	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:67589537G>A	ENST00000521381.1	+	11	1916	c.1299_splice	c.e11-1	p.D434_splice	PIK3R1_ENST00000336483.5_Splice_Site_p.D164_splice|PIK3R1_ENST00000274335.5_Splice_Site_p.D434_splice|PIK3R1_ENST00000396611.1_Splice_Site_p.D434_splice|PIK3R1_ENST00000523872.1_Splice_Site_p.D71_splice|PIK3R1_ENST00000320694.8_Splice_Site_p.D134_splice|PIK3R1_ENST00000521657.1_Splice_Site_p.D434_splice	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	434					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATCTTTCTAGGATCAAGTTGT	0.249000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			18	6					0	0	0.007413	0	0
SCN5A	6331	broad.mit.edu	37	3	38592525	38592525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38592525C>T	ENST00000413689.1	-	28	5531	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	SCN5A_ENST00000451551.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1762K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1762K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1747K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1780K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1779K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1779K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1780					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTCTCCTCCGTGGCCACG	0.507000													34	6					0	0	0.007835	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453109	25453109	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:25453109C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TCAGCCAGGTCCCCAGCTCCT	0.597000													16	11					0	0	0.003163	0	0
XPO6	23214	broad.mit.edu	37	16	28128740	28128740	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:28128740A>G	ENST00000304658.5	-	15	2403	c.1903T>C	c.(1903-1905)Tta>Cta	p.L635L	XPO6_ENST00000565698.1_Silent_p.L621L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	635					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TACTGTGCTAACCAGTGAGAG	0.458000													42	72					0	0	0.010771	0	0
UNC80	285175	broad.mit.edu	37	2	210640652	210640652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:210640652C>T	ENST00000439458.1	+	3	261	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.L61F	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	61						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCTGCATGGCCTCTCTCCAGC	0.453000													63	104					0	0	0.014410	0	0
TBL1X	6907	broad.mit.edu	37	X	9660253	9660253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:9660253G>A	ENST00000217964.7	+	9	1490	c.850G>A	c.(850-852)Gac>Aac	p.D284N	TBL1X_ENST00000424279.1_Missense_Mutation_p.D233N|TBL1X_ENST00000536365.1_Missense_Mutation_p.D233N|TBL1X_ENST00000407597.2_Missense_Mutation_p.D284N|TBL1X_ENST00000380961.1_Missense_Mutation_p.D233N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	284					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GGGGGGCCATGACGTCCCGAG	0.537000													44	6					0	0	0.011902	0	0
OR1S2	219958	broad.mit.edu	37	11	57971343	57971343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:57971343G>A	ENST00000302592.6	-	1	310	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ATAAGAGATGGATTGGCTGTT	0.438000													94	36					0	0	0.014410	0	0
SSTR2	6752	broad.mit.edu	37	17	71166319	71166319	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166319C>T	ENST00000357585.2	+	2	1230	c.861C>T	c.(859-861)acC>acT	p.T287T	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.T287T	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	287					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCAGCCCCACCCCAGCCCTTA	0.502000													101	8					0	0	0.014410	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115143	17115143	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17115143A>G	ENST00000443236.1	-	8	785	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.F205L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	205						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAAAAATGAACCATTCTCCC	0.478000													20	65					0	0	0.002780	0	0
GPX5	2880	broad.mit.edu	37	6	28493858	28493858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:28493858C>T	ENST00000412168.2	+	1	157	c.68C>T	c.(67-69)cCc>cTc	p.P23L	GPX6_ENST00000483058.1_Intron|GPX5_ENST00000469384.1_Missense_Mutation_p.P23L	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	23					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CAAACAAGTCCCAAGCAGGAG	0.502000													80	189					0	0	0.014410	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461793	85461793	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:85461793C>T	ENST00000394573.1	+	10	1036	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SLC28A1_ENST00000537703.1_Silent_p.S200S|SLC28A1_ENST00000538177.1_Silent_p.S278S|SLC28A1_ENST00000286749.3_Silent_p.S278S|SLC28A1_ENST00000537216.1_Silent_p.S278S|SLC28A1_ENST00000537624.1_Silent_p.S278S	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	278					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGTCATATCCGTTCTCTACC	0.577000													80	115					0	0	0.014410	0	0
DYSF	8291	broad.mit.edu	37	2	71892301	71892301	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71892301G>A	ENST00000258104.3	+	46	5344	c.5067G>A	c.(5065-5067)ccG>ccA	p.P1689P	DYSF_ENST00000409744.1_Silent_p.P1697P|DYSF_ENST00000410020.3_Silent_p.P1728P|DYSF_ENST00000413539.2_Silent_p.P1720P|DYSF_ENST00000409366.1_Silent_p.P1711P|DYSF_ENST00000409762.1_Silent_p.P1706P|DYSF_ENST00000409582.3_Silent_p.P1727P|DYSF_ENST00000410041.1_Silent_p.P1707P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.P1690P|DYSF_ENST00000409651.1_Silent_p.P1721P|DYSF_ENST00000429174.2_Silent_p.P1710P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1689						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTCTGGACCGAACCAGTGGC	0.577000													68	90					0	0	0.014410	0	0
FUT6	2528	broad.mit.edu	37	19	5831951	5831951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:5831951G>A	ENST00000318336.4	-	3	1822	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	FUT6_ENST00000524754.1_Nonsense_Mutation_p.Q210*|FUT6_ENST00000592563.1_Nonsense_Mutation_p.Q210*|FUT6_ENST00000527106.1_Nonsense_Mutation_p.Q210*|FUT6_ENST00000286955.5_Nonsense_Mutation_p.Q210*	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	210					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGGCTCTGGTAGTAGCGC	0.647000													63	42					0	0	0.014410	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592193	1592193	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:1592193C>T	ENST00000279477.7	-	2	307	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	81	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.522000													4	81					0	0	0.001984	0	0
FOSL2	2355	broad.mit.edu	37	2	28635177	28635177	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:28635177C>T	ENST00000264716.4	+	4	1706	c.843C>T	c.(841-843)gtC>gtT	p.V281V	FOSL2_ENST00000379619.1_Silent_p.V273V|FOSL2_ENST00000545753.1_Silent_p.V242V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	281					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGAACCTCGTCTTCACCTATC	0.617000													20	36					0	0	0.010504	0	0
TPCN1	53373	broad.mit.edu	37	12	113716033	113716033	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:113716033G>A	ENST00000550785.1	+	14	1609	c.1440G>A	c.(1438-1440)ttG>ttA	p.L480L	TPCN1_ENST00000335509.6_Silent_p.L408L|TPCN1_ENST00000541517.1_Silent_p.L480L|TPCN1_ENST00000392569.4_Silent_p.L340L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	408						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTGCTGCTTTGAAGTGGAAGG	0.473000													16	72					0	0	0.008871	0	0
ZNF398	57541	broad.mit.edu	37	7	148876644	148876644	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148876644C>T	ENST00000420008.2	+	6	1955	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	ZNF398_ENST00000475153.1_Silent_p.I560I|ZNF398_ENST00000540950.1_Silent_p.I565I|ZNF398_ENST00000491174.1_Silent_p.I389I|ZNF398_ENST00000426851.2_Silent_p.I389I|ZNF398_ENST00000335901.4_Silent_p.I389I|ZNF398_ENST00000483892.1_Silent_p.I389I	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	560					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACCAGCGCATCCACACCGGGG	0.607000													51	141					0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38647508	38647508	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38647508G>A	ENST00000413689.1	-	10	1465	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SCN5A_ENST00000451551.2_Silent_p.I424I|SCN5A_ENST00000414099.2_Silent_p.I424I|SCN5A_ENST00000425664.1_Silent_p.I424I|SCN5A_ENST00000450102.2_Silent_p.I424I|SCN5A_ENST00000449557.2_Silent_p.I424I|SCN5A_ENST00000455624.2_Silent_p.I424I|SCN5A_ENST00000333535.4_Silent_p.I424I|SCN5A_ENST00000443581.1_Silent_p.I424I|SCN5A_ENST00000423572.2_Silent_p.I424I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	424					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTCTCAGCGATGGTGGCTT	0.552000													42	6					0	0	0.014410	0	0
OR51I1	390063	broad.mit.edu	37	11	5462079	5462079	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5462079C>T	ENST00000380211.1	-	1	665	c.666G>A	c.(664-666)ttG>ttA	p.L222L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCAGGATCAATGCGTAGG	0.468000													9	27					0	0	0.004482	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588613	20588613	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:20588613C>T	ENST00000428453.1	-	0	4137																		p.E1150K(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTGTATTCTCCTTCTCACAC	0.418000													9	34					0	0	0.006214	0	0
DVL3	1857	broad.mit.edu	37	3	183888383	183888383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:183888383C>T	ENST00000313143.3	+	15	2239	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	DVL3_ENST00000431765.1_Missense_Mutation_p.P647L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	664					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCTACGGCCCCCCCATGCTG	0.736000													11	9					0	0	0.013537	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627549	162627549	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:162627549A>C	ENST00000375514.5	+	3	435	c.148A>C	c.(148-150)Aaa>Caa	p.K50Q	SLC4A10_ENST00000421911.1_Missense_Mutation_p.K39Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.K39Q|SLC4A10_ENST00000446997.1_Missense_Mutation_p.K39Q|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.K39Q|SLC4A10_ENST00000535165.1_Missense_Mutation_p.K39Q	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	39					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACACTTTGAGAAAGAAGATTT	0.338000													11	7					0	0	0.013537	0	0
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000419131.1_Missense_Mutation_p.G189E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303000													34	74					0	0	0.004878	0	0
PTPN23	25930	broad.mit.edu	37	3	47454615	47454615	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47454615C>T	ENST00000265562.4	+	25	4928	c.4851C>T	c.(4849-4851)acC>acT	p.T1617T	PTPN23_ENST00000431726.1_Silent_p.T1491T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1617					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGGGCCACCCGGCCCTCTG	0.592000													38	4					0	0	0.006230	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196044978	196044978	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:196044978G>T	ENST00000325318.5	-	1	181	c.46C>A	c.(46-48)Cct>Act	p.P16T		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	16							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCAGCCTCAGGCACCCCGTCG	0.662000													6	23					8.12818e-05	0.000111678	0.001984	1	0
LPO	4025	broad.mit.edu	37	17	56345253	56345253	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:56345253C>T	ENST00000262290.4	+	13	2353	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	LPO_ENST00000543544.1_Silent_p.V620V|LPO_ENST00000421678.2_Silent_p.V596V|LPO_ENST00000582328.1_Silent_p.V596V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	679					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCACCAAGGTCCCACGGGACC	0.552000													45	64					0	0	0.014410	0	0
DENND6B	414918	broad.mit.edu	37	22	50750839	50750839	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:50750839T>C	ENST00000413817.2	-	19	1639	c.1568A>G	c.(1567-1569)gAg>gGg	p.E523G		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CATCCAGGTCTCGATGTTCTG	0.622000													9	15					0	0	0.010729	0	0
LRPPRC	10128	broad.mit.edu	37	2	44121759	44121759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:44121759C>T	ENST00000260665.7	-	36	3967	c.3910G>A	c.(3910-3912)Gtg>Atg	p.V1304M		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1304	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAGATTTCACAGTTGATGCC	0.279000													178	195					0	0	0.014410	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580624	53580624	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:53580624G>A	ENST00000371494.4	-	3	364	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SLC1A7_ENST00000371491.4_Silent_p.S79S|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	79						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TGGCATCCAGGGAGGCAAGTC	0.652000													19	0					0	0	0.010504	0	0
MDN1	23195	broad.mit.edu	37	6	90402487	90402487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:90402487G>A	ENST00000369393.3	-	63	10377	c.10262C>T	c.(10261-10263)tCa>tTa	p.S3421L	MDN1_ENST00000428876.1_Missense_Mutation_p.S3421L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3421					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGTGGAGTGAGGTGTGGAG	0.582000													58	4					0	0	0.014410	0	0
ZNF432	9668	broad.mit.edu	37	19	52537165	52537165	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:52537165T>C	ENST00000594154.1	-	5	1979	c.1767A>G	c.(1765-1767)caA>caG	p.Q589Q	ZNF432_ENST00000221315.5_Silent_p.Q589Q			O94892	ZN432_HUMAN	zinc finger protein 432	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGTATGAACTTGCTTATGTA	0.378000													55	33					0	0	0.014410	0	0
ABRA	137735	broad.mit.edu	37	8	107782177	107782177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:107782177G>A	ENST00000311955.3	-	1	296	c.242C>T	c.(241-243)tCg>tTg	p.S81L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	81					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCGGGGTGGCGACTTTGGGGC	0.557000													78	31					0	0	0.014410	0	0
CHL1	10752	broad.mit.edu	37	3	447381	447381	+	Missense_Mutation	SNP	C	C	T	rs150211430		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:447381C>T	ENST00000256509.2	+	28	4304	c.3662C>T	c.(3661-3663)cCc>cTc	p.P1221L	CHL1_ENST00000397491.2_Missense_Mutation_p.P1205L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1205					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCAACTTTTCCCCTTCGGGCA	0.418000													29	17					0	0	0.007291	0	0
MYO6	4646	broad.mit.edu	37	6	76558150	76558150	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:76558150T>C	ENST00000369981.3	+	11	1259	c.980T>C	c.(979-981)aTt>aCt	p.I327T	MYO6_ENST00000369985.4_Missense_Mutation_p.I327T|MYO6_ENST00000369977.3_Missense_Mutation_p.I327T|MYO6_ENST00000369975.1_Missense_Mutation_p.I327T			Q9UM54	MYO6_HUMAN	myosin VI	327	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATGAAAAAAATTGGTTTGGAT	0.418000													61	1					0	0	0.014410	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:107007411G>A	ENST00000484422.1	+	0	260																											ACAGAGGGACGATGTCCAAAA	0.448000													20	30					0	0	0.003954	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936041	94936041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94936041G>A	ENST00000337425.5	-	2	265	c.191C>T	c.(190-192)tCc>tTc	p.S64F	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S46F|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S64F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	46					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTGTTGAGGGAATACACCTG	0.587000													33	48					0	0	0.012213	0	0
PTPN4	5775	broad.mit.edu	37	2	120702670	120702670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:120702670C>T	ENST00000263708.2	+	16	2140	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P90S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	457						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAAGAGACCCCTGGAGATGG	0.378000													24	43					0	0	0.004656	0	0
SFSWAP	6433	broad.mit.edu	37	12	132249039	132249039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:132249039G>A	ENST00000261674.4	+	12	1900	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E587K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	587					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGGCCAAAGAAAATGATCT	0.408000													14	1					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179411907	179411907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179411907C>T	ENST00000589042.1	-	340	94569	c.94345G>A	c.(94345-94347)Gaa>Aaa	p.E31449K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29808K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22509K|TTN_ENST00000460472.2_Missense_Mutation_p.E22384K|TTN_ENST00000342992.6_Missense_Mutation_p.E28881K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22576K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29808	Fibronectin type-III 129.						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)			GTATTACGTTCTTTCTTCTCA	0.423000													181	191					0	0	0.014410	0	0
SLC17A7	57030	broad.mit.edu	37	19	49937914	49937914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:49937914C>T	ENST00000221485.3	-	5	753	c.582G>A	c.(580-582)tgG>tgA	p.W194*	SLC17A7_ENST00000600601.1_Nonsense_Mutation_p.W127*|SLC17A7_ENST00000543531.1_Nonsense_Mutation_p.W182*	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	194					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCATTTGCTCCAGATCCCAT	0.592000													37	26					0	0	0.006230	0	0
LRRC31	79782	broad.mit.edu	37	3	169574597	169574597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:169574597C>T	ENST00000316428.5	-	4	608	c.551G>A	c.(550-552)gGa>gAa	p.G184E	LRRC31_ENST00000264676.5_Missense_Mutation_p.G128E|LRRC31_ENST00000523069.1_Missense_Mutation_p.G184E|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	184										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAAATTTCCTCCCACTTTACT	0.413000													42	56					0	0	0.007835	0	0
ATAD2B	54454	broad.mit.edu	37	2	24107743	24107743	+	Splice_Site	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:24107743C>A	ENST00000238789.5	-	6	1019	c.675_splice	c.e6-1	p.E226_splice		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	226							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATGTTTTCCTTTTAAAGA	0.333000													9	14					5.68852e-11	7.91028e-11	0.004482	1	0
DSCAML1	57453	broad.mit.edu	37	11	117647624	117647624	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:117647624C>T	ENST00000321322.6	-	3	574	c.573G>A	c.(571-573)gtG>gtA	p.V191V	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	131	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTGATCCTCCACCCGGACGG	0.527000													21	3					0	0	0.003330	0	0
VARS	7407	broad.mit.edu	37	6	31747260	31747260	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:31747260G>A	ENST00000375663.3	-	28	3782	c.3342C>T	c.(3340-3342)atC>atT	p.I1114I		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1114					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGCTCGCGTGATGCTTAGCG	0.697000													278	170					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179582416	179582416	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179582416C>T	ENST00000589042.1	-	87	25409	c.25185G>A	c.(25183-25185)aaG>aaA	p.K8395K	TTN_ENST00000591111.1_Silent_p.K8078K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.K7151K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8078	Ig-like 66.						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)			GAACCCCATCCTTGTACCAAG	0.418000													17	20					0	0	0.007413	0	0
MTMR4	9110	broad.mit.edu	37	17	56582272	56582272	+	Silent	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:56582272A>C	ENST00000323456.5	-	12	1291	c.1167T>G	c.(1165-1167)gcT>gcG	p.A389A	MTMR4_ENST00000579925.1_Silent_p.A389A	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	389	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACCAGCACAGCTGCTTTTA	0.557000													40	39					0	0	0.005524	0	0
OR51G1	79324	broad.mit.edu	37	11	4944710	4944710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4944710G>A	ENST00000321961.2	-	1	927	c.860C>T	c.(859-861)cCc>cTc	p.P287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453000													32	66					0	0	0.006999	0	0
STEAP3	55240	broad.mit.edu	37	2	120003121	120003121	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:120003121A>C	ENST00000354888.5	+	3	553	c.49A>C	c.(49-51)Agc>Cgc	p.S17R	STEAP3_ENST00000393110.2_Missense_Mutation_p.S27R|STEAP3_ENST00000425223.2_Missense_Mutation_p.S17R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.S17R|STEAP3_ENST00000409811.1_Missense_Mutation_p.S17R|STEAP3_ENST00000393106.2_Missense_Mutation_p.S17R|STEAP3_ENST00000393107.2_Missense_Mutation_p.S17R|STEAP3_ENST00000450943.2_Missense_Mutation_p.S17R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	17					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTGGTGGACAGCGATAGTAG	0.617000													32	33					0	0	0.004289	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062918	48062918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:48062918C>T	ENST00000316364.5	+	19	2597	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L645F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L664F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L658F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L701F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L658F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L720F|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L677F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L658F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	720					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACTGAATGGTCTCTTTGACAG	0.443000													38	70					0	0	0.005524	0	0
NLRP2	55655	broad.mit.edu	37	19	55501975	55501975	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55501975G>A	ENST00000543010.1	+	10	2786	c.2643G>A	c.(2641-2643)ggG>ggA	p.G881G	NLRP2_ENST00000339757.7_Silent_p.G859G|NLRP2_ENST00000448584.2_Silent_p.G881G|NLRP2_ENST00000538819.1_Silent_p.G857G|NLRP2_ENST00000537859.1_Silent_p.G859G|NLRP2_ENST00000391721.4_Silent_p.G857G|NLRP2_ENST00000427260.2_Silent_p.G858G|NLRP2_ENST00000263437.6_Silent_p.G878G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	881					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)		ACCCCATTGGGAATACAGGGG	0.542000													14	45					0	0	0.004990	0	0
PTPN4	5775	broad.mit.edu	37	2	120702669	120702669	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:120702669C>T	ENST00000263708.2	+	16	2139	c.1368C>T	c.(1366-1368)acC>acT	p.T456T	PTPN4_ENST00000544261.1_Silent_p.T89T	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	456						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CACAAGAGACCCCTGGAGATG	0.383000													22	43					0	0	0.003330	0	0
GCLC	2729	broad.mit.edu	37	6	53387244	53387244	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:53387244G>A	ENST00000229416.6	-	2	715	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	GCLC_ENST00000514004.1_Silent_p.L78L	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	78					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTCTCTTGCAGAGTTTCAAGA	0.373000													42	95					0	0	0.014410	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062327	144062327	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:144062327C>T	ENST00000056217.5	+	2	2739	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	855					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCCATTGCCCCCAAAGTCCA	0.587000													38	84					0	0	0.011902	0	0
MYOM2	9172	broad.mit.edu	37	8	2054311	2054311	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:2054311G>A	ENST00000262113.4	+	23	3063	c.2922G>A	c.(2920-2922)aaG>aaA	p.K974K	MYOM2_ENST00000523438.1_Silent_p.K399K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	974	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCGGATAAGGAGGATTTAG	0.408000													14	14					0	0	0.002450	0	0
ARPP21	10777	broad.mit.edu	37	3	35763126	35763126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:35763126C>T	ENST00000187397.4	+	14	1481	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ARPP21_ENST00000444190.1_Missense_Mutation_p.S288F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S288F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S308F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S308F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	342	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGAGAACATCTGGGAGTCGA	0.527000													14	3					0	0	0.004990	0	0
ADAM23	8745	broad.mit.edu	37	2	207437857	207437857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:207437857G>A	ENST00000264377.3	+	18	2003	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ADAM23_ENST00000374416.1_Missense_Mutation_p.E559K|ADAM23_ENST00000374415.3_Missense_Mutation_p.E559K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	559	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACGAGGGTATGAATGCCGGGA	0.368000													68	94					0	0	0.014410	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756405	94756405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94756405C>T	ENST00000554723.1	-	2	1064	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.E176K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E176K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E176K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	176					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAGTCTCTTTGACATCA	0.453000													48	65					0	0	0.014410	0	0
TENM1	10178	broad.mit.edu	37	X	123785916	123785916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:123785916G>A	ENST00000422452.2	-	8	1490	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	TENM1_ENST00000371130.3_Missense_Mutation_p.S476F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTATCATCAGAGCCCTTGGA	0.433000													42	2					0	0	0.010771	0	0
ATP10D	57205	broad.mit.edu	37	4	47538884	47538884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:47538884C>T	ENST00000273859.3	+	9	1594	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I	ATP10D_ENST00000504445.1_Missense_Mutation_p.T427I	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	442					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						AAGACAGGAACCCTCACTGAG	0.428000													9	28					0	0	0.004482	0	0
MICU3	286097	broad.mit.edu	37	8	16962938	16962938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:16962938C>T	ENST00000318063.5	+	11	1144	c.1102C>T	c.(1102-1104)Caa>Taa	p.Q368*	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		GGATAATCTCCAAACAGAAGT	0.313000													3	17					0	0	0.004672	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_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				108	3					0	0	0.014410	0	0
ANK1	286	broad.mit.edu	37	8	41525791	41525791	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:41525791C>T	ENST00000396942.1	-	39	5471	c.5388G>A	c.(5386-5388)gtG>gtA	p.V1796V	ANK1_ENST00000379758.2_Silent_p.V1796V|ANK1_ENST00000396945.1_Silent_p.V1796V|ANK1_ENST00000265709.8_Silent_p.V1837V|ANK1_ENST00000289734.7_Silent_p.V1796V|ANK1_ENST00000347528.4_Silent_p.V1796V|ANK1_ENST00000352337.4_Silent_p.V1796V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1796	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACCTGCACCACTTGGGTGA	0.652000													19	59					0	0	0.014323	0	0
CHRM3	1131	broad.mit.edu	37	1	240070807	240070807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240070807C>T	ENST00000255380.4	+	5	835	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	19					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCAGCTCCTCCTGGATACAC	0.522000													57	73					0	0	0.014410	0	0
FOXG1	2290	broad.mit.edu	37	14	29237835	29237835	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:29237835C>T	ENST00000382535.3	+	2	1719	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	FOXG1_ENST00000313071.4_Silent_p.T450T			P55316	FOXG1_HUMAN	forkhead box G1	450				QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCCCTCGACCCTGCCCTGTG	0.582000													26	46					0	0	0.003330	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292756	102292756	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:102292756G>A	ENST00000561463.1	+	0	802																											GGCAGAGCAGGCACAGCGGCG	0.607000													4	9					0	0	0.009096	0	0
BDKRB2	624	broad.mit.edu	37	14	96703467	96703467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:96703467C>T	ENST00000306005.3	+	2	219	c.23C>T	c.(22-24)tCa>tTa	p.S8L	BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S8L|BDKRB2_ENST00000539359.1_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.S8L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	8					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGGAAGATATCAATGTTTCTG	0.527000													51	70					0	0	0.014410	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763249	31763249	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:31763249C>T	ENST00000253362.2	+	5	593	c.447C>T	c.(445-447)tcC>tcT	p.S149S	BPIFA2_ENST00000354932.5_Silent_p.S149S			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	149						extracellular region	lipid binding										TGAAAGCCTCCTTGGACCTCC	0.532000													105	102					0	0	0.014410	0	0
ADAM18	8749	broad.mit.edu	37	8	39467034	39467034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:39467034G>A	ENST00000265707.5	+	5	343	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.E100K|ADAM18_ENST00000379866.1_Missense_Mutation_p.E100K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	100					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.E100K(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATATGCTGCCGAATTTCCAAA	0.323000													25	20					0	0	0.008361	0	0
NPAP1	23742	broad.mit.edu	37	15	24921772	24921772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:24921772G>A	ENST00000329468.2	+	1	1232	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G253E(1)									CGGCATCTTGGAAAGCCTGAT	0.637000													26	38					0	0	0.006320	0	0
TRRAP	8295	broad.mit.edu	37	7	98513439	98513439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:98513439C>T	ENST00000359863.4	+	19	2502	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R764C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R765C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	765					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCGCTGTTTCGCTCTATTGG	0.527000													43	53					0	0	0.011902	0	0
ARID5A	10865	broad.mit.edu	37	2	97217463	97217463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:97217463C>T	ENST00000454558.2	+	7	2171	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	ARID5A_ENST00000357485.3_Missense_Mutation_p.H400Y			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	400					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TTCTGCGTTCCATAAAGGTGG	0.632000													21	25					0	0	0.014323	0	0
DLG2	1740	broad.mit.edu	37	11	83676394	83676394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:83676394G>A	ENST00000398309.2	-	8	1329	c.859C>T	c.(859-861)Cct>Tct	p.P287S	DLG2_ENST00000531015.1_Missense_Mutation_p.P254S|DLG2_ENST00000418306.2_Missense_Mutation_p.P236S|DLG2_ENST00000543673.1_Missense_Mutation_p.P392S|DLG2_ENST00000376104.2_Missense_Mutation_p.P392S|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.P41S|DLG2_ENST00000330014.6_Missense_Mutation_p.P226S|DLG2_ENST00000280241.8_Missense_Mutation_p.P326S|DLG2_ENST00000532653.1_Missense_Mutation_p.P287S|DLG2_ENST00000398301.2_Missense_Mutation_p.P326S|DLG2_ENST00000524982.1_Missense_Mutation_p.P287S	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	287						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGACCATAAGGATCAGTCATA	0.368000													36	6					0	0	0.004878	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66768135	66768135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:66768135C>T	ENST00000258198.2	-	6	985	c.779G>A	c.(778-780)aGg>aAg	p.R260K	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R221K|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.R183K	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	260					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AAGGCAGAACCTCCGCAGGTG	0.532000													20	31					0	0	0.002780	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948554	133948554	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:133948554T>C	ENST00000298622.4	+	4	997	c.859T>C	c.(859-861)Ttg>Ctg	p.L287L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAACAGCAGTTGGATGAAAA	0.488000													24	1					0	0	0.004656	0	0
PSG6	5675	broad.mit.edu	37	19	43414736	43414736	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43414736G>A	ENST00000187910.2	-	3	767	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PSG6_ENST00000402603.4_Silent_p.L234L|PSG6_ENST00000292125.2_Silent_p.L234L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTCACGGAGGAGATTCAGGG	0.517000													52	160					0	0	0.014410	0	0
ENHO	375704	broad.mit.edu	37	9	34521573	34521573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:34521573C>T	ENST00000399775.2	-	2	546	c.121G>A	c.(121-123)Gtt>Att	p.V41I	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	41						extracellular region				endometrium(1)|lung(1)	2						AGAGAGTCAACGTCGGCAGAG	0.632000													28	38					0	0	0.006320	0	0
PHF21B	112885	broad.mit.edu	37	22	45279178	45279178	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:45279178G>A	ENST00000313237.5	-	13	1534	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	PHF21B_ENST00000396103.3_Silent_p.L420L|PHF21B_ENST00000404079.2_Silent_p.L408L|PHF21B_ENST00000403565.1_Silent_p.L258L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	462							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTCAACTCCAGGCATTTCTGT	0.637000													33	50					0	0	0.012213	0	0
EXPH5	23086	broad.mit.edu	37	11	108381479	108381479	+	Silent	SNP	C	C	T	rs144642316		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:108381479C>T	ENST00000265843.4	-	6	4865	c.4755G>A	c.(4753-4755)ggG>ggA	p.G1585G	EXPH5_ENST00000443411.1_Silent_p.G1397G|EXPH5_ENST00000525344.1_Silent_p.G1578G|EXPH5_ENST00000428840.1_Silent_p.G1509G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1585					intracellular protein transport		Rab GTPase binding	p.G1585G(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATCTATTTTCCCCCTTTACTA	0.423000													22	12					0	0	0.004656	0	0
OR2J3	442186	broad.mit.edu	37	6	29080276	29080276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:29080276G>A	ENST00000377169.1	+	1	609	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGACCCTCATGATCACAAGCT	0.473000													77	26					0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54306605	54306605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:54306605C>T	ENST00000545554.1	+	1	1505	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S502L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S502L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	502					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)		AGCAGAATTTCAAATAAATCA	0.393000													36	34					0	0	0.013726	0	0
IL3	3562	broad.mit.edu	37	5	131396672	131396672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:131396672C>T	ENST00000296870.2	+	2	353	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	59					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CTTCAACAACCTCAATGGGGA	0.552000													48	4					0	0	0.014410	0	0
MYH13	8735	broad.mit.edu	37	17	10267773	10267773	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10267773G>A	ENST00000418404.3	-	2	238	c.75C>T	c.(73-75)atC>atT	p.I25I	MYH13_ENST00000570743.1_Silent_p.I25I|MYH13_ENST00000252172.4_Silent_p.I25I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	25	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGAGCCTCGATTCTCTCCT	0.478000													19	8					0	0	0.007413	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:136566094C>T	ENST00000264162.2	-	8	3833	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1275	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)		AGCCCCACTCCGTTTTCGGTG	0.502000													97	110					0	0	0.014410	0	0
VIPAS39	63894	broad.mit.edu	37	14	77902196	77902196	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:77902196G>A	ENST00000553888.1	-	13	1413	c.903C>T	c.(901-903)atC>atT	p.I301I	VIPAS39_ENST00000343765.2_Silent_p.I301I|VIPAS39_ENST00000556412.1_Silent_p.I327I|VIPAS39_ENST00000448935.2_Silent_p.I252I|VIPAS39_ENST00000557658.1_Silent_p.I301I|VIPAS39_ENST00000327028.4_Silent_p.I288I	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCTCAATAATGATCTGACGTT	0.463000													46	50					0	0	0.014410	0	0
GFPT2	9945	broad.mit.edu	37	5	179755283	179755283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:179755283G>A	ENST00000253778.8	-	7	759	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	197	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCACCGTGTGGCAACGGCTTC	0.532000											OREG0017113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	54					0	0	0.007835	0	0
DNMT1	1786	broad.mit.edu	37	19	10250421	10250421	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:10250421G>A	ENST00000340748.4	-	33	4066	c.3831C>T	c.(3829-3831)tcC>tcT	p.S1277S	DNMT1_ENST00000540357.1_Silent_p.S1277S|DNMT1_ENST00000359526.4_Silent_p.S1293S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1277	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCAGGACCATGGAGCGCTTGA	0.632000													23	11					0	0	0.002780	0	0
CDCA7L	55536	broad.mit.edu	37	7	21948053	21948053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21948053C>T	ENST00000406877.3	-	4	655	c.376G>A	c.(376-378)Gat>Aat	p.D126N	CDCA7L_ENST00000356195.5_Missense_Mutation_p.D92N|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D80N|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	126					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.D126Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTAGCCTTATCTTCTTCTTCA	0.438000													39	48					0	0	0.004878	0	0
C10orf120	399814	broad.mit.edu	37	10	124457576	124457576	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:124457576C>T	ENST00000329446.4	-	3	712	c.681G>A	c.(679-681)aaG>aaA	p.K227K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	227										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTCCTCTTTCTTATCTTGGT	0.388000													25	2					0	0	0.002780	0	0
POTEG	404785	broad.mit.edu	37	14	19553780	19553780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:19553780G>A	ENST00000409832.3	+	1	416	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	122										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCTTGGGGAGACTACGACGA	0.592000													46	792					0	0	0.014410	0	0
ABCC9	10060	broad.mit.edu	37	12	22013982	22013982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:22013982C>T	ENST00000261200.4	-	19	2346	c.2347G>A	c.(2347-2349)Gct>Act	p.A783T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.A783T|ABCC9_ENST00000345162.2_Missense_Mutation_p.A747T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	783	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTGACAGCTTTGTACCTT	0.328000													15	64					0	0	0.002450	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589536	67589536	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:67589536G>A	ENST00000521381.1	+	11	1915		c.e11-1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATCTTTCTAGGATCAAGTTG	0.254000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			18	6					0	0	0.007413	0	0
NLRC3	197358	broad.mit.edu	37	16	3614346	3614346	+	RNA	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:3614346A>C	ENST00000301749.7	-	0	997				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACGTGCGGGAAGACCGAGCAG	0.652000													10	21					0	0	0.008291	0	0
SVEP1	79987	broad.mit.edu	37	9	113228145	113228145	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113228145C>T	ENST00000401783.2	-	18	3658	c.3322_splice	c.e18+1	p.V1108_splice	SVEP1_ENST00000302728.8_Splice_Site_p.V1108_splice|SVEP1_ENST00000374469.1_Splice_Site_p.V1085_splice|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1108					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTTGATAACCTCCACATGCA	0.423000													5	0					0	0	0.000602	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88920115	88920115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:88920115G>A	ENST00000277141.6	-	24	4169	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1255L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S1057L|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S193L|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S1293L			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1293	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTTTTCCTTGATAATCCAGC	0.303000													29	3					0	0	0.013726	0	0
FNDC3B	64778	broad.mit.edu	37	3	172061988	172061988	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:172061988C>T	ENST00000336824.4	+	19	2289	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V	FNDC3B_ENST00000415807.2_Silent_p.V730V|FNDC3B_ENST00000416957.1_Silent_p.V730V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	730	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTGCACCGTCGGCAACCTGC	0.567000													80	100					0	0	0.014410	0	0
KIF16B	55614	broad.mit.edu	37	20	16486750	16486750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:16486750G>A	ENST00000354981.2	-	8	942	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KIF16B_ENST00000355755.3_Missense_Mutation_p.T262I|KIF16B_ENST00000408042.1_Missense_Mutation_p.T262I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	262	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGTGGCTCCGGTGGCATCTGC	0.488000													81	95					0	0	0.014410	0	0
SEPP1	6414	broad.mit.edu	37	5	42808288	42808288	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42808288T>C	ENST00000514985.1	-	2	424	c.168A>G	c.(166-168)caA>caG	p.Q56Q	SEPP1_ENST00000506577.1_Silent_p.Q56Q|SEPP1_ENST00000511224.1_Silent_p.Q56Q|SEPP1_ENST00000507920.1_Silent_p.Q56Q|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	56					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATCAGCTGGCTTGAAGAAGAG	0.443000													40	70					0	0	0.013114	0	0
CDH9	1007	broad.mit.edu	37	5	26903764	26903764	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:26903764C>T	ENST00000231021.4	-	6	1153	c.981G>A	c.(979-981)ggG>ggA	p.G327G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTTATAATCCCTTCCTGTG	0.408000													102	82					0	0	0.014410	0	0
BIN2	51411	broad.mit.edu	37	12	51685417	51685417	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:51685417G>A	ENST00000267012.4	-	10	1534	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	BIN2_ENST00000452142.2_Silent_p.N459N|BIN2_ENST00000544402.1_Silent_p.N465N|BIN2_ENST00000604560.1_Silent_p.N464N	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	491						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTTCTTCAGGGTTCTGATTGT	0.408000													309	33					0	0	0.014410	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697046	94697046	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94697046C>T	ENST00000304338.3	+	4	571	c.417C>T	c.(415-417)ctC>ctT	p.L139L	PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	139						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGTCATTCTCCTGCATCTGG	0.418000													64	70					0	0	0.014410	0	0
KLHL20	27252	broad.mit.edu	37	1	173703375	173703375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:173703375C>T	ENST00000209884.4	+	3	683	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	183	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTCATGTCGTGAGTTGCT	0.448000													53	47					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179621414	179621414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179621414C>T	ENST00000589042.1	-	46	11013	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3283							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)			GACTTAATTTCCTTTTGAGAT	0.408000													38	53					0	0	0.004878	0	0
FAM47A	158724	broad.mit.edu	37	X	34149456	34149456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:34149456G>A	ENST00000346193.3	-	1	991	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	314										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						GGCTCCTGGCGGAGATGGGAC	0.607000													22	3					0	0	0.012319	0	0
PRSS58	136541	broad.mit.edu	37	7	141955396	141955396	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:141955396G>A	ENST00000552471.1	-	2	457	c.138C>T	c.(136-138)atC>atT	p.I46I	PRSS58_ENST00000547058.2_Silent_p.I46I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	46	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AAAGCGGGTGGATCAGGACTC	0.498000													38	84					0	0	0.006230	0	0
FSIP1	161835	broad.mit.edu	37	15	40057916	40057916	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:40057916T>C	ENST00000350221.3	-	4	551	c.342A>G	c.(340-342)caA>caG	p.Q114Q		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	114										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CATCTTGAAGTTGAGAATCTA	0.274000													18	40					0	0	0.012319	0	0
LMF1	64788	broad.mit.edu	37	16	984245	984245	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:984245G>A	ENST00000262301.11	-	3	531	c.514_splice	c.e3+1	p.F171_splice	LA16c-366D3.1_ENST00000569574.1_RNA|LMF1_ENST00000568897.1_Intron|LMF1_ENST00000543238.1_Intron|LMF1_ENST00000399843.2_Intron|LA16c-366D3.1_ENST00000567820.1_RNA|LMF1_ENST00000539379.1_Silent_p.F164F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	171						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCACTTACCGAAAGAGTACC	0.458000													21	31					0	0	0.003330	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918742	17918742	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17918742G>A	ENST00000318683.6	+	2	273	c.126G>A	c.(124-126)gcG>gcA	p.A42A	B3GNT3_ENST00000595387.1_Silent_p.A42A	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	42					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						AGCCACCGGCGATCCCCGAGG	0.677000													24	8					0	0	0.003330	0	0
OR4N5	390437	broad.mit.edu	37	14	20612583	20612583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20612583C>T	ENST00000333629.1	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAGCACTCCTCTGAAGGAAAG	0.493000													65	67					0	0	0.014410	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4976637C>T	ENST00000380371.1	-	1	306	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000													93	7					0	0	0.014410	0	0
FAM155A	728215	broad.mit.edu	37	13	108518107	108518107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:108518107C>T	ENST00000375915.2	-	1	976	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCAAACTCTTCGTATTTCTCC	0.527000													33	78					0	0	0.010818	0	0
PUS7L	83448	broad.mit.edu	37	12	44148738	44148738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:44148738C>T	ENST00000416848.2	-	2	799	c.311G>A	c.(310-312)gGt>gAt	p.G104D	PUS7L_ENST00000551923.1_Missense_Mutation_p.G104D|PUS7L_ENST00000553166.1_Missense_Mutation_p.G104D|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.G104D	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	104					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTTTCTGAACCAGACTGATG	0.353000													23	549					0	0	0.002780	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036488	21036488	+	Missense_Mutation	SNP	C	C	T	rs78627909		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:21036488C>T	ENST00000381545.3	+	13	1853	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	LST3_ENST00000540229.1_Missense_Mutation_p.S545F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S545F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S545F|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	545					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S545C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTCATAAACTCTTTGTTCTCT	0.358000													50	59					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124401217	124401217	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:124401217A>C	ENST00000409039.3	+	62	10607	c.10582A>C	c.(10582-10584)Acc>Ccc	p.T3528P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3528	AAA 5 (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)		GTACCTGAACACCAAGCTGGC	0.423000													30	5					0	0	0.006320	0	0
FMN2	56776	broad.mit.edu	37	1	240371023	240371023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:240371023C>T	ENST00000319653.9	+	5	3141	c.2911C>T	c.(2911-2913)Ccc>Tcc	p.P971S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	971	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCCCTCTTCCCGGAGCAGG	0.706000													12	17					0	0	0.010729	0	0
NFIL3	4783	broad.mit.edu	37	9	94172146	94172146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:94172146C>T	ENST00000297689.3	-	2	1265	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	291					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ACCTGTTGCTCGTCTTCTCCA	0.522000													111	11					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23891496	23891496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:23891496C>T	ENST00000355349.3	-	25	3300	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1046					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCAGGTCCATGCGCACCT	0.577000													46	51					0	0	0.014410	0	0
SLC4A10	57282	broad.mit.edu	37	2	162730517	162730517	+	Splice_Site	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:162730517T>C	ENST00000446997.1	+	8	1041		c.e8+2		SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000493021.1_Splice_Site|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000535165.1_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGAGAGAGGTGAGGGCATAC	0.473000													10	6					0	0	0.008291	0	0
TKTL2	84076	broad.mit.edu	37	4	164393850	164393850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164393850G>A	ENST00000280605.3	-	1	1197	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	346						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGTTCATCGTGTCACCACT	0.423000													28	28					0	0	0.006320	0	0
SLC9A8	23315	broad.mit.edu	37	20	48466142	48466142	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:48466142C>T	ENST00000417961.1	+	6	669	c.459C>T	c.(457-459)tcC>tcT	p.S153S	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000361573.2_Silent_p.S153S|SLC9A8_ENST00000541138.1_5'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	153						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATATTGGTTCCATCACCCTGT	0.423000													22	40					0	0	0.014323	0	0
EVI5L	115704	broad.mit.edu	37	19	7913848	7913848	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7913848C>T	ENST00000270530.4	+	4	565	c.369C>T	c.(367-369)atC>atT	p.I123I	EVI5L_ENST00000538904.2_Silent_p.I123I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	123	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCGGGCCATCGTGTGGCAGC	0.677000													23	8					0	0	0.006320	0	0
TRPC4	7223	broad.mit.edu	37	13	38225438	38225438	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:38225438C>T	ENST00000379705.3	-	8	2900	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.K508K|TRPC4_ENST00000355779.2_Silent_p.K681K|TRPC4_ENST00000379681.3_Silent_p.K681K|TRPC4_ENST00000338947.5_Silent_p.K508K|TRPC4_ENST00000358477.2_Silent_p.K681K|TRPC4_ENST00000447043.1_Silent_p.K681K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	681	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCTTCTCATCTTTTTCTTGC	0.388000													51	25					0	0	0.014410	0	0
MMRN1	22915	broad.mit.edu	37	4	90857607	90857607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:90857607G>A	ENST00000394980.1	+	7	3095	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	MMRN1_ENST00000264790.2_Missense_Mutation_p.E926K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.E668K			Q13201	MMRN1_HUMAN	multimerin 1	926					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.E926K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTCTCCACGAAGTTTTAAC	0.373000													29	20					0	0	0.005443	0	0
TMEM30A	55754	broad.mit.edu	37	6	75965893	75965893	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:75965893G>A	ENST00000230461.6	-	7	1340	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	TMEM30A_ENST00000370050.5_Silent_p.F218F|TMEM30A_ENST00000475111.2_Silent_p.F301F	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	337						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCAGAAGGAAGGAGATGG	0.353000													27	2					0	0	0.003954	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298683	125298683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:125298683C>T	ENST00000538699.1	-	2	1305	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G409S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	409										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGAGCCAGCCTCTGCCGCAG	0.607000													102	3					0	0	0.014410	0	0
TTC18	118491	broad.mit.edu	37	10	75072323	75072323	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:75072323G>A	ENST00000310715.3	-	11	1321	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.L401L|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.L401L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	401							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGACAGCAGAGAATTAATT	0.368000													86	12					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9056224	9056224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9056224C>T	ENST00000397910.4	-	3	31425	c.31222G>A	c.(31222-31224)Gga>Aga	p.G10408R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10410	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						GTCACTGTTCCCAGCTCAACG	0.478000													62	160					0	0	0.014410	0	0
LILRB4	11006	broad.mit.edu	37	19	55174488	55174488	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55174488G>A	ENST00000391736.1	+	3	318	c.3G>A	c.(1-3)atG>atA	p.M1I	LILRB4_ENST00000391734.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000430952.2_Start_Codon_SNP_p.M1I|LILRB4_ENST00000391733.3_Start_Codon_SNP_p.M1I|LILRB4_ENST00000270452.2_Start_Codon_SNP_p.M1I	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	1						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGACGCCATGATCCCCACCT	0.617000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	51	32					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113277716	113277716	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:113277716C>T	ENST00000297405.5	-	60	9856	c.9612G>A	c.(9610-9612)acG>acA	p.T3204T	CSMD3_ENST00000455883.2_Silent_p.T3035T|CSMD3_ENST00000352409.3_Silent_p.T3134T|CSMD3_ENST00000343508.3_Silent_p.T3164T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3204	Sushi 24.					integral to membrane|plasma membrane		p.T3164T(1)|p.T3204T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAATTCCATCGTGTAGCCTG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	79					0	0	0.013726	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319582	43319582	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:43319582T>C	ENST00000321925.4	+	8	1133	c.901T>C	c.(901-903)Ttc>Ctc	p.F301L	SLC14A1_ENST00000589700.1_Silent_p.C251C|SLC14A1_ENST00000535474.1_Missense_Mutation_p.F169L|SLC14A1_ENST00000402943.2_Missense_Mutation_p.F196L|SLC14A1_ENST00000415427.3_Missense_Mutation_p.F357L|SLC14A1_ENST00000591541.1_Missense_Mutation_p.F5L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.F357L|SLC14A1_ENST00000586142.1_Missense_Mutation_p.F301L|SLC14A1_ENST00000502059.2_Missense_Mutation_p.F193L|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	301						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGAGGAATGTTCATGGCGCT	0.547000													48	39					0	0	0.014410	0	0
CERS5	91012	broad.mit.edu	37	12	50524405	50524405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:50524405G>A	ENST00000317551.6	-	10	1226	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CERS5_ENST00000422340.2_Missense_Mutation_p.P310S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	368					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGTCACAGGGACTTTTTGTG	0.517000													30	65					0	0	0.007291	0	0
ATP12A	479	broad.mit.edu	37	13	25268653	25268653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:25268653G>A	ENST00000218548.6	+	11	1800	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	ATP12A_ENST00000381946.3_Missense_Mutation_p.M483I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	483					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGATGTGATGGAAATTAGAA	0.368000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	34					0	0	0.014410	0	0
OR5M9	390162	broad.mit.edu	37	11	56230234	56230234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:56230234G>A	ENST00000279791.1	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGAGTGTAGGAGATGAGGAC	0.498000													4	12					0	0	0.009096	0	0
CDH8	1006	broad.mit.edu	37	16	61689414	61689414	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:61689414G>A	ENST00000577390.1	-	11	2820	c.1866C>T	c.(1864-1866)ggC>ggT	p.G622G	CDH8_ENST00000577730.1_Silent_p.G622G|CDH8_ENST00000299345.6_Silent_p.G622G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	622					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G622G(2)		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)		CAATTAAGGCGCCCATACTGA	0.448000													37	29					0	0	0.004878	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309527	89309527	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:89309527C>T	ENST00000493819.1	-	0	360																											AATCTTCAGGCTGCAGGCTGC	0.478000													72	120					0	0	0.014410	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215708	20215708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:20215708G>A	ENST00000331723.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTCCTGGGAAACCTCTTG	0.398000													80	206					0	0	0.014410	0	0
NPY1R	4886	broad.mit.edu	37	4	164246466	164246466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164246466C>T	ENST00000296533.2	-	3	1675	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	NPY1R_ENST00000509586.1_Missense_Mutation_p.E139K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	382					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATTTTTTCATTATCATCA	0.378000													24	27					0	0	0.003330	0	0
C9	735	broad.mit.edu	37	5	39331893	39331893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:39331893G>A	ENST00000263408.4	-	5	595	c.500C>T	c.(499-501)cCc>cTc	p.P167L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	167	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGCTTAGGGGATCCATCCC	0.458000													89	161					0	0	0.014410	0	0
ZNF841	284371	broad.mit.edu	37	19	52570755	52570755	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:52570755T>C	ENST00000389534.4	-	7	839	c.380A>G	c.(379-381)gAa>gGa	p.E127G	ZNF841_ENST00000359973.2_Missense_Mutation_p.E11G|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.E11G|ZNF841_ENST00000594295.1_Missense_Mutation_p.E127G	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTAAAAATTTTCAGTGTCATA	0.368000													6	2					0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10296153	10296153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10296153C>T	ENST00000403437.2	-	37	5552	c.5458G>A	c.(5458-5460)Gcc>Acc	p.A1820T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1820					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						CCCACCCTGGCCTCCAGTTTC	0.557000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				79	64					0	0	0.014410	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262057	140262057	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140262057C>T	ENST00000289272.2	+	1	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.S68S|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCGTCCAAAAGACACG	0.622000													112	10					0	0	0.014410	0	0
ITFG1	81533	broad.mit.edu	37	16	47485329	47485329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:47485329G>A	ENST00000320640.6	-	5	766	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	ITFG1_ENST00000544001.2_Nonsense_Mutation_p.Q67*	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	180						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCTGTGGCTGGTTGGATTCA	0.289000													21	35					0	0	0.003954	0	0
MYOCD	93649	broad.mit.edu	37	17	12666879	12666879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:12666879C>T	ENST00000425538.1	+	14	3079	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P912L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	912					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P912R(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAGCAGCCCCAGCATCTTC	0.512000													26	13					0	0	0.003330	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562320	32562320	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:32562320C>T	ENST00000345122.3	+	2	2760	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S815S|ARHGAP5_ENST00000556611.1_Silent_p.S815S|ARHGAP5_ENST00000539826.2_Silent_p.S815S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	815					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAATAATTCCCTAATGCTTG	0.388000													48	55					0	0	0.014410	0	0
PLCB1	23236	broad.mit.edu	37	20	8717712	8717712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:8717712G>A	ENST00000378641.3	+	20	2556	c.2081G>A	c.(2080-2082)gGg>gAg	p.G694E	PLCB1_ENST00000378637.2_Missense_Mutation_p.G694E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G694E|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	694	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAAGTTGGGACTTACGTG	0.353000													36	70					0	0	0.004878	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727819	18727819	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:18727819A>T	ENST00000600490.1	+	6	756	c.571A>T	c.(571-573)Ata>Tta	p.I191L	TMEM59L_ENST00000262817.3_Missense_Mutation_p.I191L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	191						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GACTCAGCCCATAGTGGAGAG	0.662000													85	42					0	0	0.014410	0	0
ADD1	118	broad.mit.edu	37	4	2899946	2899946	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:2899946C>T	ENST00000355842.3	+	8	1640	c.777C>T	c.(775-777)tcC>tcT	p.S259S	ADD1_ENST00000446856.1_Silent_p.S259S|ADD1_ENST00000398129.1_Silent_p.S259S|ADD1_ENST00000398125.1_Silent_p.S259S|ADD1_ENST00000503455.2_Silent_p.S259S|ADD1_ENST00000264758.7_Silent_p.S259S|ADD1_ENST00000398123.2_Silent_p.S259S|ADD1_ENST00000513328.2_Silent_p.S259S			P35611	ADDA_HUMAN	adducin 1 (alpha)	259					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCAATCTCCCCGGAGGCGC	0.463000													39	74					0	0	0.013114	0	0
GABRA1	2554	broad.mit.edu	37	5	161324166	161324166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:161324166C>T	ENST00000428797.2	+	11	1464	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	GABRA1_ENST00000393943.4_Missense_Mutation_p.P370L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P370L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P370L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P370L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P370L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	370					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACTTACGCTCCAACAGCAACC	0.438000													77	7					0	0	0.014410	0	0
RANBP2	5903	broad.mit.edu	37	2	109400092	109400092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:109400092C>T	ENST00000283195.6	+	29	9536	c.9410C>T	c.(9409-9411)tCc>tTc	p.S3137F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3137	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCGGACAGTCCATTTATGGA	0.328000													33	58					0	0	0.004289	0	0
NUP85	79902	broad.mit.edu	37	17	73222188	73222188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:73222188C>T	ENST00000447371.2	+	10	950	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	NUP85_ENST00000579298.1_Missense_Mutation_p.P299S|NUP85_ENST00000245544.4_Missense_Mutation_p.P344S|NUP85_ENST00000579324.1_Missense_Mutation_p.P232S|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.P298S			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	344					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGCCCAGAACCCCTGGACAA	0.527000													44	57					0	0	0.014410	0	0
TLE2	7089	broad.mit.edu	37	19	3005503	3005503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3005503C>T	ENST00000262953.6	-	17	2090	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	TLE2_ENST00000443826.3_Missense_Mutation_p.D488N|TLE2_ENST00000590536.1_Missense_Mutation_p.D611N|TLE2_ENST00000591529.1_Missense_Mutation_p.D624N|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.D624N|TLE2_ENST00000447365.2_Missense_Mutation_p.D277N|TLE2_ENST00000455444.2_Missense_Mutation_p.D488N	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	610					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ACCGTGTTGTCCAGGCCCCCT	0.657000													11	9					0	0	0.013537	0	0
LOC81691	81691	broad.mit.edu	37	16	20856428	20856428	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20856428G>C	ENST00000261377.6	+	18	2198	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	AC004381.6_ENST00000348433.6_Missense_Mutation_p.K632N|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K663N	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TCACAGGCAAGGACTGGAAGC	0.537000													21	33					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13754446	13754446	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13754446G>A	ENST00000265104.4	-	62	10525	c.10419_splice	c.e62-1	p.T3474_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3474	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCAAGCAAGGTCTAACAAAG	0.423000									Kartagener syndrome				44	71					0	0	0.014410	0	0
SMEK2	57223	broad.mit.edu	37	2	55804480	55804480	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:55804480C>A	ENST00000272313.5	-	10	1808	c.1481G>T	c.(1480-1482)gGa>gTa	p.G494V	SMEK2_ENST00000345102.5_Missense_Mutation_p.G526V|SMEK2_ENST00000407823.3_Missense_Mutation_p.G494V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	526						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTGTTTGATCCAACtatatt	0.244000													23	24					2.70639e-06	3.74081e-06	0.014323	1	0
HUNK	30811	broad.mit.edu	37	21	33318448	33318448	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:33318448G>A	ENST00000270112.2	+	4	1071	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	237	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCTCGCCAGGAAGAAATACG	0.532000													51	45					0	0	0.014410	0	0
EPHA4	2043	broad.mit.edu	37	2	222365881	222365881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:222365881C>T	ENST00000281821.2	-	4	876	c.835G>A	c.(835-837)Gga>Aga	p.G279R	EPHA4_ENST00000409938.1_Missense_Mutation_p.G279R|EPHA4_ENST00000392071.4_Missense_Mutation_p.G228R|EPHA4_ENST00000409854.1_Missense_Mutation_p.G279R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	279	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGTAATATCCAATTTTGCAA	0.488000													32	45					0	0	0.003755	0	0
NTRK3	4916	broad.mit.edu	37	15	88476248	88476248	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:88476248G>A	ENST00000394480.1	-	16	2205	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	NTRK3_ENST00000542733.2_Silent_p.F530F|NTRK3_ENST00000357724.2_Silent_p.F620F|NTRK3_ENST00000558676.1_Silent_p.F620F|NTRK3_ENST00000360948.2_Silent_p.F628F|NTRK3_ENST00000355254.2_Silent_p.F628F|NTRK3_ENST00000557856.1_Silent_p.F620F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	628	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTACCTGAGGAACTTATTCA	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			23	22					0	0	0.006320	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:4936151G>A	ENST00000322013.3	-	1	771	c.743C>T	c.(742-744)tCc>tTc	p.S248F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000													39	34					0	0	0.007835	0	0
KALRN	8997	broad.mit.edu	37	3	124149562	124149562	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:124149562C>T	ENST00000360013.3	+	16	2890	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	KALRN_ENST00000460856.1_Silent_p.S921S|KALRN_ENST00000240874.3_Silent_p.S921S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	921					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAATGCCAGCTCTTTGTCGG	0.577000													31	42					0	0	0.010818	0	0
ELMO1	9844	broad.mit.edu	37	7	37264565	37264565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:37264565G>A	ENST00000310758.4	-	9	1267	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S207L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S207L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	207					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCACCATCGACTCCAAAAT	0.502000													35	46					0	0	0.013726	0	0
DSTYK	25778	broad.mit.edu	37	1	205138811	205138811	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:205138811G>A	ENST00000367162.3	-	3	834	c.804C>T	c.(802-804)atC>atT	p.I268I	DSTYK_ENST00000367160.4_Silent_p.I268I|DSTYK_ENST00000367161.3_Silent_p.I268I	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	268						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AATACTTTCGGATTTCCTGAA	0.443000													30	32					0	0	0.006320	0	0
NPY5R	4889	broad.mit.edu	37	4	164272160	164272160	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:164272160A>T	ENST00000515560.1	+	4	2257	c.735A>T	c.(733-735)aaA>aaT	p.K245N	NPY5R_ENST00000506953.1_Missense_Mutation_p.K245N|NPY5R_ENST00000338566.3_Missense_Mutation_p.K245N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	245					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCCAACAAAGAAAACAGAC	0.388000													16	41					0	0	0.004007	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193244	132193244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:132193244C>T	ENST00000359827.3	-	2	1171	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R70Q|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R70Q|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R70Q			Q9HCM2	PLXA4_HUMAN	plexin A4	70	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTGTAAATCCGATTGACGGC	0.577000													37	76					0	0	0.005524	0	0
OR2A14	135941	broad.mit.edu	37	7	143826896	143826896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:143826896G>T	ENST00000408899.2	+	1	746	c.691G>T	c.(691-693)Gag>Tag	p.E231*		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCAGTCTGGGGAGGGCCGCAG	0.617000													72	175					5.98616e-33	8.42605e-33	0.014410	1	0
MOGAT2	80168	broad.mit.edu	37	11	75439891	75439891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:75439891C>T	ENST00000526712.1	+	4	1234	c.461C>T	c.(460-462)cCc>cTc	p.P154L	MOGAT2_ENST00000198801.5_Missense_Mutation_p.P236L			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	236					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GACCAGATTCCCAACTCTTCT	0.537000													64	52					0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55537822	55537822	+	Silent	SNP	G	G	A	rs143494598	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:55537822G>A	ENST00000220676.1	+	4	1528	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	460					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)			TGAGACAAAAGAAATCTGTGA	0.418000													31	26					0	0	0.009535	0	0
SUPT3H	8464	broad.mit.edu	37	6	44929497	44929497	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:44929497T>C	ENST00000371460.1	-	9	923	c.606A>G	c.(604-606)ttA>ttG	p.L202L	SUPT3H_ENST00000371459.1_Silent_p.L191L|SUPT3H_ENST00000306867.5_Silent_p.L191L|SUPT3H_ENST00000371461.2_Silent_p.L202L	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	273					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TACAGAAACTTAATTGTCGAC	0.279000													102	66					0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883255	131883255	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131883255G>A	ENST00000359827.3	-	13	3689	c.2727C>T	c.(2725-2727)atC>atT	p.I909I	PLXNA4_ENST00000321063.4_Silent_p.I909I			Q9HCM2	PLXA4_HUMAN	plexin A4	909	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTGCAGGGATGTAACCAT	0.547000													42	81					0	0	0.013114	0	0
ZNF354B	117608	broad.mit.edu	37	5	178294031	178294031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:178294031C>T	ENST00000322434.3	+	4	441	c.215C>T	c.(214-216)cCc>cTc	p.P72L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAGATCCCTGGGAGGTG	0.488000													38	69					0	0	0.009718	0	0
DNAH7	56171	broad.mit.edu	37	2	196722348	196722348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:196722348G>A	ENST00000312428.6	-	44	8267	c.8167C>T	c.(8167-8169)Cct>Tct	p.P2723S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2723	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTGGGTCAGGGATTTTGTCA	0.428000													29	35					0	0	0.005443	0	0
TRHR	7201	broad.mit.edu	37	8	110100093	110100093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:110100093G>A	ENST00000518632.1	+	2	703	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TRHR_ENST00000311762.2_Missense_Mutation_p.A118T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	118						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTCAATAACAGCCTTTACCAT	0.433000													20	52					0	0	0.010504	0	0
SORCS3	22986	broad.mit.edu	37	10	107007010	107007010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:107007010C>T	ENST00000369701.3	+	22	3253	c.3026C>T	c.(3025-3027)cCt>cTt	p.P1009L	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1009						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)		TCATTCTCTCCTAATCTGGAT	0.438000													25	3					0	0	0.005443	0	0
ZNF99	7652	broad.mit.edu	37	19	22942238	22942238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:22942238G>A	ENST00000397104.3	-	4	535	c.536C>T	c.(535-537)tCa>tTa	p.S179L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S158L					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)				ATTTGAATTTGAATATTTATG	0.274000													6	1					0	0	0.001168	0	0
GC	2638	broad.mit.edu	37	4	72620797	72620797	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:72620797A>G	ENST00000273951.8	-	9	1405	c.1062T>C	c.(1060-1062)acT>acC	p.T354T	GC_ENST00000513476.1_Silent_p.T354T|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.T373T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	354	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CCGGAAGATGAGTCCTTCTGC	0.333000													30	17					0	0	0.013726	0	0
NUTM1	256646	broad.mit.edu	37	15	34647840	34647840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:34647840G>A	ENST00000537011.1	+	8	2013	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	NUTM1_ENST00000438749.3_Missense_Mutation_p.G534E|NUTM1_ENST00000333756.4_Missense_Mutation_p.G516E					NUT midline carcinoma, family member 1																		GGGCTTCAGGGGGCTGGGGGC	0.592000													59	93					0	0	0.014410	0	0
OR2L13	284521	broad.mit.edu	37	1	248263604	248263604	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:248263604C>T	ENST00000366478.2	+	3	1264	c.927C>T	c.(925-927)ttC>ttT	p.F309F	OR2L13_ENST00000358120.2_Silent_p.F309F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TATTCTCTTTCCTGAAAGAAT	0.448000													26	3					0	0	0.004656	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029425	83029425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:83029425C>T	ENST00000307792.3	-	11	1752	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G369R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	429	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTATATTTTCCATCTGTTTTT	0.403000													84	120					0	0	0.014410	0	0
STAT2	6773	broad.mit.edu	37	12	56743038	56743038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:56743038G>A	ENST00000314128.4	-	16	1372	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	STAT2_ENST00000557235.1_Missense_Mutation_p.T446I|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	450					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACAGGGAGGGTGTCCGTCTG	0.512000													25	48					0	0	0.003954	0	0
RASA3	22821	broad.mit.edu	37	13	114758001	114758001	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:114758001G>A	ENST00000334062.7	-	22	2326	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	RASA3_ENST00000389544.4_Silent_p.S703S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	735					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGTTGAAGAGGGAGTAGATAC	0.572000													32	21					0	0	0.005524	0	0
RPGR	6103	broad.mit.edu	37	X	38132689	38132689	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:38132689G>A	ENST00000339363.3	-	17	2973	c.2806C>T	c.(2806-2808)Cta>Tta	p.L936L	RPGR_ENST00000318842.7_Silent_p.L731L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Silent_p.L669L|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	936					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTTTTCTAGGATTTCTAAT	0.313000													20	0					0	0	0.003330	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401213	17401213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:17401213C>T	ENST00000470360.1	+	4	602	c.485C>T	c.(484-486)tCg>tTg	p.S162L	SLC7A2_ENST00000494857.1_Missense_Mutation_p.S122L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S122L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S162L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S162L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	122					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCATTTTATCGTATGTGATA	0.478000													19	32					0	0	0.008871	0	0
MME	4311	broad.mit.edu	37	3	154861319	154861319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:154861319C>T	ENST00000460393.1	+	13	1396	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	MME_ENST00000492661.1_Missense_Mutation_p.L426F|MME_ENST00000493237.1_Missense_Mutation_p.L426F|MME_ENST00000462745.1_Missense_Mutation_p.L426F|MME_ENST00000360490.2_Missense_Mutation_p.L426F	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	426					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGTGGGGAGGCTTTATGTGGA	0.413000													45	75					0	0	0.013114	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079655	128079655	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:128079655A>C	ENST00000409947.1	-	12	1294	c.1012T>G	c.(1012-1014)Ttg>Gtg	p.L338V	MAP3K2_ENST00000344908.5_Missense_Mutation_p.L338V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	338					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATTACGGTCAAAGTAGGATTG	0.378000													15	22					0	0	0.003163	0	0
GJD2	57369	broad.mit.edu	37	15	35045084	35045084	+	Silent	SNP	G	G	A	rs142736723		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:35045084G>A	ENST00000290374.4	-	2	1037	c.561C>T	c.(559-561)tcC>tcT	p.S187S		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	187					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTCTGAGCTTGGATTTTGATG	0.483000													77	83					0	0	0.014410	0	0
MYH15	22989	broad.mit.edu	37	3	108107893	108107893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:108107893C>T	ENST00000273353.3	-	39	5575	c.5519G>A	c.(5518-5520)gGt>gAt	p.G1840D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1840						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACGGATTTCACCCTCCAGTTC	0.537000													36	86					0	0	0.006230	0	0
KCNB1	3745	broad.mit.edu	37	20	47990040	47990040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:47990040G>A	ENST00000371741.4	-	2	2223	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	686					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCTAGAACGGGGAGGAGTGG	0.557000													34	49					0	0	0.012213	0	0
GLI2	2736	broad.mit.edu	37	2	121726459	121726459	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:121726459T>C	ENST00000452319.1	+	6	873	c.813T>C	c.(811-813)ggT>ggC	p.G271G	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.G271G			P10070	GLI2_HUMAN	GLI family zinc finger 2	271					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGCCAGCGGTTCCTACGGGC	0.667000													15	43					0	0	0.004990	0	0
KCNK9	51305	broad.mit.edu	37	8	140630827	140630827	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:140630827T>A	ENST00000520439.1	-	2	862	c.799A>T	c.(799-801)Aac>Tac	p.N267Y	KCNK9_ENST00000303015.1_Missense_Mutation_p.N267Y			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	267						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTGTTGCGGTTTCCGGCGAGG	0.632000													38	25					0	0	0.009718	0	0
ZIC3	7547	broad.mit.edu	37	X	136649461	136649461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:136649461G>A	ENST00000287538.5	+	1	1161	c.611G>A	c.(610-612)aGc>aAc	p.S204N	ZIC3_ENST00000370606.3_Missense_Mutation_p.S204N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	204					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCAGTGGCCAGCCCGCGCACG	0.692000													42	3					0	0	0.008740	0	0
SORL1	6653	broad.mit.edu	37	11	121348870	121348870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:121348870C>T	ENST00000260197.7	+	3	575	c.446C>T	c.(445-447)tCa>tTa	p.S149L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	149					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGAAAATTTCAGACAAGTTA	0.438000													14	3					0	0	0.002450	0	0
ANO1	55107	broad.mit.edu	37	11	69933967	69933967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:69933967C>T	ENST00000355303.5	+	2	523	c.218C>T	c.(217-219)cCc>cTc	p.P73L	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.P45L|ANO1_ENST00000538023.1_Missense_Mutation_p.P73L|ANO1_ENST00000530676.1_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	73					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						CACAAGAGGCCCTCGGGCAAC	0.652000													9	22					0	0	0.006214	0	0
RFXANK	8625	broad.mit.edu	37	19	19304785	19304785	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:19304785C>T	ENST00000303088.4	+	3	504	c.30C>T	c.(28-30)ctC>ctT	p.L10L	RFXANK_ENST00000392324.4_Silent_p.L10L|RFXANK_ENST00000456252.3_Silent_p.L10L|RFXANK_ENST00000407360.3_Silent_p.L10L|RFXANK_ENST00000353145.1_Silent_p.L10L	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	10						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CAGAAGACCTCATCCAGACCC	0.537000													161	121					0	0	0.014410	0	0
ITGA5	3678	broad.mit.edu	37	12	54798975	54798975	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54798975C>T	ENST00000293379.4	-	12	1461	c.1200G>A	c.(1198-1200)ggG>ggA	p.G400G	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	400					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGTCCAGGTCCCCCAGGGGGG	0.602000													23	78					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179449300	179449300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179449300G>A	ENST00000589042.1	-	311	65202	c.64978C>T	c.(64978-64980)Cct>Tct	p.P21660S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20019S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12720S|TTN_ENST00000460472.2_Missense_Mutation_p.P12595S|TTN_ENST00000342992.6_Missense_Mutation_p.P19092S|TTN_ENST00000342175.6_Missense_Mutation_p.P12787S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20019	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)			GGTTCACTAGGAACACCTGGA	0.393000													44	45					0	0	0.013114	0	0
NOL4	8715	broad.mit.edu	37	18	31684052	31684052	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31684052T>C	ENST00000261592.5	-	4	895	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	NOL4_ENST00000538587.1_Missense_Mutation_p.K126E|NOL4_ENST00000589544.1_Missense_Mutation_p.K200E|NOL4_ENST00000535475.1_Missense_Mutation_p.K45E|NOL4_ENST00000269185.4_Missense_Mutation_p.K86E	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	200						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTCATGTGTTTCATGTAGGCC	0.363000													31	67					0	0	0.013726	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246907	47246907	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:47246907G>A	ENST00000300404.2	+	11	1577	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	B4GALNT2_ENST00000504681.1_Silent_p.G420G|B4GALNT2_ENST00000393354.2_Silent_p.G446G	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	506					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATGGGCTAGGGACCCTACTCG	0.532000													69	67					0	0	0.014410	0	0
TC2N	123036	broad.mit.edu	37	14	92268603	92268603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:92268603C>T	ENST00000435962.2	-	4	787	c.464G>A	c.(463-465)gGa>gAa	p.G155E	TC2N_ENST00000556018.1_Missense_Mutation_p.G155E|TC2N_ENST00000360594.5_Missense_Mutation_p.G155E|TC2N_ENST00000340892.5_Missense_Mutation_p.G155E	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	155						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CATACCCGATCCATACAGTCT	0.358000													18	29					0	0	0.010504	0	0
ELL2	22936	broad.mit.edu	37	5	95233952	95233952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:95233952G>A	ENST00000237853.4	-	8	1866	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	ELL2_ENST00000431061.2_Missense_Mutation_p.S256F	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	506					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ACCTCCACTGGAATTTGGACT	0.348000													46	8					0	0	0.014410	0	0
NFAT5	10725	broad.mit.edu	37	16	69681274	69681274	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:69681274C>T	ENST00000349945.1	+	5	1867	c.315C>T	c.(313-315)tcC>tcT	p.S105S	NFAT5_ENST00000567239.1_Silent_p.S199S|NFAT5_ENST00000432919.1_Silent_p.S199S|NFAT5_ENST00000354436.2_Silent_p.S181S|NFAT5_ENST00000566899.1_Silent_p.S105S|NFAT5_ENST00000393742.2_Silent_p.S105S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	181					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTCCCCCTCCAACTTCAGTA	0.507000													30	40					0	0	0.008361	0	0
OR6K3	391114	broad.mit.edu	37	1	158687796	158687796	+	Missense_Mutation	SNP	A	A	T	rs138237790		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158687796A>T	ENST00000368146.1	-	1	157	c.158T>A	c.(157-159)tTt>tAt	p.F53Y	OR6K3_ENST00000368145.1_Missense_Mutation_p.F37Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AATGATAATAAAAGTATAGAT	0.368000													61	93					0	0	0.014410	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:51411637G>A	ENST00000319760.6	-	1	811	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000													17	29					0	0	0.004007	0	0
CHL1	10752	broad.mit.edu	37	3	447382	447382	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:447382C>T	ENST00000256509.2	+	28	4305	c.3663C>T	c.(3661-3663)ccC>ccT	p.P1221P	CHL1_ENST00000397491.2_Silent_p.P1205P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1205					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAACTTTTCCCCTTCGGGCAT	0.418000													29	17					0	0	0.007291	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:73056945C>T	ENST00000261180.4	+	19	3141	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000													30	16					0	0	0.009535	0	0
OR4E2	26686	broad.mit.edu	37	14	22133417	22133417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:22133417G>A	ENST00000408935.1	+	1	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AACGCTTTCAGGGAACATTCT	0.433000													161	167					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130318651	130318651	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:130318651G>A	ENST00000358511.6	+	19	4681	c.4650G>A	c.(4648-4650)aaG>aaA	p.K1550K	COL6A6_ENST00000453409.2_Silent_p.K1550K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1550	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGAAGAAAGACAGTAAGAG	0.542000													28	28					0	0	0.005443	0	0
OR2A12	346525	broad.mit.edu	37	7	143792246	143792246	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:143792246T>A	ENST00000408949.2	+	1	106	c.46T>A	c.(46-48)Ttc>Atc	p.F16I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTGTTGGGATTCCAGGTGGA	0.438000													16	83					0	0	0.004007	0	0
ATP8A2	51761	broad.mit.edu	37	13	26117518	26117518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:26117518G>A	ENST00000381655.2	+	10	1011	c.869G>A	c.(868-870)gGa>gAa	p.G290E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G250E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	250					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTTTATACTGGACACGACACC	0.378000													49	162					0	0	0.014410	0	0
QTRTD1	79691	broad.mit.edu	37	3	113786847	113786847	+	Silent	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:113786847A>C	ENST00000281273.4	+	5	527	c.270A>C	c.(268-270)tcA>tcC	p.S90S	QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000466050.1_Intron|QTRTD1_ENST00000485050.1_Silent_p.S102S|QTRTD1_ENST00000479882.1_Intron	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	90					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGCCAGAATCACTCTTGTACT	0.473000													21	66					0	0	0.014323	0	0
PTPRA	5786	broad.mit.edu	37	20	3003388	3003388	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:3003388T>G	ENST00000216877.6	+	15	1755	c.1355T>G	c.(1354-1356)aTg>aGg	p.M452R	PTPRA_ENST00000399903.2_Missense_Mutation_p.M461R|PTPRA_ENST00000380393.3_Missense_Mutation_p.M461R|PTPRA_ENST00000358719.4_Missense_Mutation_p.M317R|PTPRA_ENST00000318266.5_Missense_Mutation_p.M452R|PTPRA_ENST00000356147.3_Missense_Mutation_p.M452R|PTPRA_ENST00000425918.2_Missense_Mutation_p.M472R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	461	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGCTGGACATGATGCATACA	0.562000													42	32					0	0	0.009718	0	0
DNAH5	1767	broad.mit.edu	37	5	13771068	13771068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:13771068G>A	ENST00000265104.4	-	56	9499	c.9395C>T	c.(9394-9396)tCc>tTc	p.S3132F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3132	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATATCATAGGAAGTGAGGAA	0.388000									Kartagener syndrome				42	29					0	0	0.006999	0	0
MYEF2	50804	broad.mit.edu	37	15	48435142	48435142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:48435142C>T	ENST00000324324.7	-	17	2045	c.1766G>A	c.(1765-1767)gGc>gAc	p.G589D	MYEF2_ENST00000267836.6_Missense_Mutation_p.G565D	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	589	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATTTCTCTGCCACTGATTTT	0.393000													38	60					0	0	0.007835	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912696	54912696	+	Splice_Site	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54912696A>G	ENST00000293373.6	+	15	1499		c.e15-1		NCKAP1L_ENST00000545638.2_Splice_Site	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like						actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTTTCTTGCAGTTGATAATG	0.378000													6	30					0	0	0.001984	0	0
CEP170	9859	broad.mit.edu	37	1	243292732	243292732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:243292732C>T	ENST00000366542.1	-	18	4394	c.4343G>A	c.(4342-4344)cGg>cAg	p.R1448Q	CEP170_ENST00000366543.1_Missense_Mutation_p.R1324Q|CEP170_ENST00000366544.1_Missense_Mutation_p.R1350Q|CEP170_ENST00000481987.1_Missense_Mutation_p.R184Q|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.R157Q	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1448	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCCCAATTCCGATCTTTGTC	0.264000													11	17					0	0	0.008291	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187870	102187870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:102187870C>T	ENST00000306176.1	+	8	972	c.872C>T	c.(871-873)tCt>tTt	p.S291F	ZPLD1_ENST00000491959.1_Missense_Mutation_p.S275F|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S275F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	275	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGCCGGTTTTCTTTTGAAGTG	0.488000													30	40					0	0	0.009535	0	0
FAT4	79633	broad.mit.edu	37	4	126369688	126369688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126369688C>T	ENST00000394329.3	+	9	7530	c.7517C>T	c.(7516-7518)tCg>tTg	p.S2506L	FAT4_ENST00000335110.5_Missense_Mutation_p.S804L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2506	Cadherin 24.				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						TATTCTCTTTCGGGTAGAAAT	0.423000													22	33					0	0	0.012319	0	0
AGBL2	79841	broad.mit.edu	37	11	47712337	47712337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:47712337G>A	ENST00000525123.1	-	10	1207	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.R308C|AGBL2_ENST00000298861.4_Missense_Mutation_p.R308C|AGBL2_ENST00000528244.1_Missense_Mutation_p.R270C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	308					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCTGAACACGAAAATAAAAC	0.403000													30	55					0	0	0.008361	0	0
RPSAP52	204010	broad.mit.edu	37	12	66151915	66151915	+	RNA	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:66151915T>C	ENST00000489520.2	-	0	1028					NR_026825.2																						CATTCAGTGGTTGCTCCTACC	0.428000													3	8					0	0	0.004672	0	0
FZR1	51343	broad.mit.edu	37	19	3523026	3523026	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3523026C>T	ENST00000441788.2	+	2	275	c.39C>T	c.(37-39)atC>atT	p.I13I	FZR1_ENST00000395095.3_Silent_p.I13I|FZR1_ENST00000313639.8_Silent_p.I13I	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	13					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGCCAGATCGTCATCCAGA	0.687000													65	50					0	0	0.014410	0	0
LAMA4	3910	broad.mit.edu	37	6	112461972	112461972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:112461972G>A	ENST00000230538.7	-	22	3363	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	LAMA4_ENST00000522006.1_Missense_Mutation_p.S982F|LAMA4_ENST00000389463.4_Missense_Mutation_p.S982F|LAMA4_ENST00000424408.2_Missense_Mutation_p.S982F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	989	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTTGAAGTTGGAAGGCACTCC	0.413000													26	0					0	0	0.007291	0	0
KLHL13	90293	broad.mit.edu	37	X	117106695	117106695	+	Splice_Site	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:117106695T>C	ENST00000262820.3	-	1	1006	c.98_splice	c.e1+1	p.I33_splice	KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000540167.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	33					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCACTTACATGTATGCTGGA	0.443000													50	4					0	0	0.014410	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631784	156631784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:156631784G>A	ENST00000296518.7	+	6	676	c.467G>A	c.(466-468)gGa>gAa	p.G156E	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G156E|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G156E|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G156E|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G156E|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G156E			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	156				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGGGTGGTTGGAGGCACCCTT	0.448000													22	26					0	0	0.004656	0	0
QSOX1	5768	broad.mit.edu	37	1	180165581	180165581	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:180165581C>T	ENST00000367602.3	+	12	1727	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	QSOX1_ENST00000367600.5_Silent_p.A551A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	551					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTCAGCTGCCCGGAGGGATG	0.617000													189	6					0	0	0.014410	0	0
PDE9A	5152	broad.mit.edu	37	21	44182282	44182282	+	Missense_Mutation	SNP	T	T	C	rs145560514		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:44182282T>C	ENST00000291539.6	+	14	1235	c.1175T>C	c.(1174-1176)aTc>aCc	p.I392T	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.I265T|PDE9A_ENST00000398236.3_Missense_Mutation_p.I306T|PDE9A_ENST00000398225.3_Missense_Mutation_p.I351T|PDE9A_ENST00000335512.4_Missense_Mutation_p.I332T|PDE9A_ENST00000539837.1_Missense_Mutation_p.I264T|PDE9A_ENST00000398229.3_Missense_Mutation_p.I258T|PDE9A_ENST00000398232.3_Missense_Mutation_p.I325T|PDE9A_ENST00000398234.3_Missense_Mutation_p.I291T|PDE9A_ENST00000380328.2_Missense_Mutation_p.I339T|PDE9A_ENST00000349112.3_Missense_Mutation_p.I264T|PDE9A_ENST00000398227.3_Missense_Mutation_p.I232T|PDE9A_ENST00000335440.6_Missense_Mutation_p.I290T|PDE9A_ENST00000328862.6_Missense_Mutation_p.I366T	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	392	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCTTCCAGATCCTCGCCGAG	0.612000													30	45					0	0	0.009535	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069282	29069282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:29069282G>A	ENST00000373812.3	+	4	862	c.500G>A	c.(499-501)gGa>gAa	p.G167E	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.G117E|YTHDF2_ENST00000542507.1_Missense_Mutation_p.G167E	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	167					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATTGATGGACAGTCAGCT	0.468000													29	3					0	0	0.009535	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	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				108	3					0	0	0.014410	0	0
ACSM2B	348158	broad.mit.edu	37	16	20556489	20556489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:20556489G>A	ENST00000329697.6	-	10	1439	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	ACSM2B_ENST00000565232.1_Missense_Mutation_p.S424F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S345F|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S424F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	424					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATAGCCAGAGAAGATGCC	0.512000													40	45					0	0	0.013114	0	0
CES1	1066	broad.mit.edu	37	16	55855329	55855329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:55855329G>A	ENST00000422046.2	-	5	922	c.641C>T	c.(640-642)tCt>tTt	p.S214F	CES1_ENST00000360526.3_Missense_Mutation_p.S215F|CES1_ENST00000361503.4_Missense_Mutation_p.S214F			P23141	EST1_HUMAN	carboxylesterase 1	214					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GATGGTCACAGAGCCTGGGTT	0.587000													31	64					0	0	0.013726	0	0
NETO1	81832	broad.mit.edu	37	18	70526078	70526078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:70526078C>T	ENST00000327305.6	-	4	1109	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	NETO1_ENST00000397929.1_Missense_Mutation_p.R150Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R150Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.R151Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	151	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAAATTGTATCGAGCTGAAAA	0.323000													48	2					0	0	0.014410	0	0
ANXA6	309	broad.mit.edu	37	5	150502500	150502500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:150502500G>A	ENST00000354546.5	-	16	1438	c.1211C>T	c.(1210-1212)aCc>aTc	p.T404I	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T372I|ANXA6_ENST00000521512.1_Missense_Mutation_p.T197I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T404I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	404						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACTTGAAGGTCTGCCGGAT	0.562000													40	2					0	0	0.007835	0	0
TPO	7173	broad.mit.edu	37	2	1480956	1480956	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:1480956G>A	ENST00000345913.4	+	8	1009	c.918G>A	c.(916-918)ggG>ggA	p.G306G	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000337415.3_Silent_p.G306G|TPO_ENST00000382201.3_Silent_p.G306G|TPO_ENST00000346956.3_Silent_p.G306G|TPO_ENST00000329066.4_Silent_p.G306G|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTCTTTGGGAACCTGTCCA	0.711000													17	25					0	0	0.004990	0	0
RANBP17	64901	broad.mit.edu	37	5	170720948	170720948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:170720948C>T	ENST00000523189.1	+	26	3169	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1002					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTCAGTATCCAGGCCTCTC	0.488000			T	TRD@	ALL								143	177					0	0	0.014410	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505189	151505189	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:151505189G>A	ENST00000317605.4	+	1	2113	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	336					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCCTGGAGAGCGCTGCCA	0.587000													8	24					0	0	0.004482	0	0
AIFM3	150209	broad.mit.edu	37	22	21328425	21328425	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:21328425G>A	ENST00000399167.2	+	5	669	c.429G>A	c.(427-429)gaG>gaA	p.E143E	AIFM3_ENST00000399163.2_Silent_p.E143E|AIFM3_ENST00000335375.5_Silent_p.E131E|AIFM3_ENST00000405089.1_Silent_p.E149E|AIFM3_ENST00000440238.2_Silent_p.E143E|AIFM3_ENST00000333607.6_Silent_p.E143E	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGACCTGGAGGACTTCCCTG	0.667000													17	34					0	0	0.006122	0	0
RYR3	6263	broad.mit.edu	37	15	34042414	34042414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:34042414G>A	ENST00000389232.4	+	57	8396	c.8326G>A	c.(8326-8328)Gaa>Aaa	p.E2776K	RYR3_ENST00000415757.3_Missense_Mutation_p.E2776K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2776	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGCCAAGGAAAAGTTCAA	0.493000													14	11					0	0	0.003163	0	0
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100468309C>T	ENST00000200457.4	+	6	1303	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	315	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617000													43	73					0	0	0.008740	0	0
DNAH11	8701	broad.mit.edu	37	7	21894070	21894070	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21894070G>A	ENST00000328843.6	+	69	11251	c.11220G>A	c.(11218-11220)ttG>ttA	p.L3740L	DNAH11_ENST00000409508.3_Silent_p.L3733L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3740					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTCTCTTTGAAGGTAATGC	0.338000									Kartagener syndrome				23	62					0	0	0.005443	0	0
MAATS1	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587000													26	97					0	0	0.006320	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771133	145771133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:145771133G>A	ENST00000276826.5	-	5	2222	c.2021C>T	c.(2020-2022)cCc>cTc	p.P674L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P674L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P674L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	674					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGAGCTGGGAACGCCGCT	0.642000													13	17					0	0	0.002450	0	0
ZFP2	80108	broad.mit.edu	37	5	178359231	178359231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:178359231C>T	ENST00000361362.2	+	5	1447	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZFP2_ENST00000523286.1_Missense_Mutation_p.S306F|ZFP2_ENST00000503510.2_Missense_Mutation_p.S306F|ZFP2_ENST00000520301.1_Missense_Mutation_p.S306F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGCGGGAAATCCTTTAGCCAA	0.368000													33	39					0	0	0.004289	0	0
C21orf62	56245	broad.mit.edu	37	21	34166432	34166432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:34166432C>T	ENST00000536776.1	-	2	441	c.301G>A	c.(301-303)Gac>Aac	p.D101N	C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.D101N|C21orf62_ENST00000487113.1_Missense_Mutation_p.D101N|C21orf62_ENST00000479548.1_Missense_Mutation_p.D101N|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382375.4_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	101										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AGCTTCAGGTCTTGGACCAGC	0.562000													24	36					0	0	0.003330	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798067	55798067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55798067C>T	ENST00000313555.1	+	1	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTCAAATTCCCATGTATTAT	0.343000													25	19					0	0	0.003954	0	0
TMEM109	79073	broad.mit.edu	37	11	60688446	60688446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:60688446C>T	ENST00000227525.3	+	3	729	c.326C>T	c.(325-327)gCc>gTc	p.A109V	TMEM109_ENST00000536171.1_Missense_Mutation_p.A109V|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	109						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGCTGAATGCCTTGGGACTA	0.532000													30	78					0	0	0.008361	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631396	77631396	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:77631396G>A	ENST00000296043.6	+	3	1364	c.411G>A	c.(409-411)agG>agA	p.R137R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	137					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCAGCACAGGAAAGCAGCGT	0.542000													16	57					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179590695	179590695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179590695G>A	ENST00000589042.1	-	70	20578	c.20354C>T	c.(20353-20355)tCg>tTg	p.S6785L	TTN_ENST00000591111.1_Missense_Mutation_p.S6468L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5541L|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6468	Ig-like 49.						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)			TGGTGTTCCCGAAAGTTCACA	0.413000													26	35					0	0	0.004656	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66768134	66768134	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:66768134C>T	ENST00000258198.2	-	6	986	c.780G>A	c.(778-780)agG>agA	p.R260R	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Silent_p.R221R|DYNC1LI2_ENST00000443351.2_Silent_p.R183R	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	260					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GAAGGCAGAACCTCCGCAGGT	0.532000													21	32					0	0	0.003330	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519764	69519764	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:69519764T>A	ENST00000338206.5	-	5	1313	c.1304A>T	c.(1303-1305)aAt>aTt	p.N435I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	435					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACAGGGTCATTAATGACTGA	0.378000													92	61					0	0	0.014410	0	0
CDH18	1016	broad.mit.edu	37	5	19473751	19473751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:19473751C>T	ENST00000507958.1	-	15	2947	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.E653K|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E653K			Q13634	CAD18_HUMAN	cadherin 18, type 2	653					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACGTTCTCCCGTACATCC	0.478000													164	133					0	0	0.014410	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196044977	196044977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:196044977G>A	ENST00000325318.5	-	1	182	c.47C>T	c.(46-48)cCt>cTt	p.P16L		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	16							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTCAGCCTCAGGCACCCCGTC	0.667000													6	23					0	0	0.001984	0	0
RSPH1	89765	broad.mit.edu	37	21	43897453	43897453	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:43897453G>A	ENST00000291536.3	-	7	842	c.675C>T	c.(673-675)ccC>ccT	p.P225P	RSPH1_ENST00000398352.3_Silent_p.P187P	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	225					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCGGCTTTTTGGGGAGAGTTG	0.562000													38	55					0	0	0.006230	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731763	94731763	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94731763A>G	ENST00000304338.3	+	21	2391	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	746						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTGCCCAAGAACATCCCCATT	0.348000													27	39					0	0	0.004878	0	0
RXFP1	59350	broad.mit.edu	37	4	159533473	159533473	+	Silent	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:159533473T>A	ENST00000307765.5	+	8	890	c.639T>A	c.(637-639)atT>atA	p.I213I	RXFP1_ENST00000460056.2_Silent_p.I132I|RXFP1_ENST00000448688.2_Silent_p.I132I|RXFP1_ENST00000470033.1_Silent_p.I180I|RXFP1_ENST00000343542.5_Silent_p.I213I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	213						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGTCGAATTTCCCCACCAA	0.279000													14	10					0	0	0.004007	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104212809	104212809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:104212809G>A	ENST00000202556.9	-	9	1333	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	351					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGGGAACCTGGATATAAGGC	0.542000													32	45					0	0	0.008361	0	0
ERC2	26059	broad.mit.edu	37	3	56041241	56041241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:56041241C>T	ENST00000288221.6	-	10	2284	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	677						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGCTACATTCCTCTTTCTTT	0.333000													6	0					0	0	0.001168	0	0
ARID1A	8289	broad.mit.edu	37	1	27056144	27056144	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:27056144A>G	ENST00000324856.7	+	2	1511	c.1140A>G	c.(1138-1140)ccA>ccG	p.P380P	ARID1A_ENST00000457599.2_Silent_p.P380P|ARID1A_ENST00000374152.2_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	380					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTTTGTAGCCATCCAGTCCAA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								57	6					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179419596	179419596	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179419596G>A	ENST00000589042.1	-	331	88814	c.88590C>T	c.(88588-88590)atC>atT	p.I29530I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I27889I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I20590I|TTN_ENST00000460472.2_Silent_p.I20465I|TTN_ENST00000342992.6_Silent_p.I26962I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I20657I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27889	Fibronectin type-III 115.						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)			ACCTACCAAGGATCTGTACTC	0.398000													41	40					0	0	0.006999	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:79358832G>A	ENST00000370742.3	-	13	1855	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R598C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000													30	1					0	0	0.004878	0	0
ZNF484	83744	broad.mit.edu	37	9	95608527	95608527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:95608527G>A	ENST00000395505.2	-	3	2526	c.2434C>T	c.(2434-2436)Caa>Taa	p.Q812*	ZNF484_ENST00000375495.3_Nonsense_Mutation_p.Q848*|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.Q812*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.Q850*|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGAAAGTTGGCCTTGGTCA	0.428000													56	7					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872309	51872309	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:51872309A>T	ENST00000371497.5	+	2	3199	c.2312A>T	c.(2311-2313)aAa>aTa	p.K771I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.K768I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K768I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	771					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCAAGTCCAAAAGCAAGAAA	0.552000													55	53					0	0	0.014410	0	0
CACNA1C	775	broad.mit.edu	37	12	2613673	2613673	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:2613673C>T	ENST00000406454.3	+	8	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.F395F|CACNA1C_ENST00000399603.1_Silent_p.F395F|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399634.1_Silent_p.F395F|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.F395F|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTTTTTCGTTCTAAATC	0.488000													59	89					0	0	0.014410	0	0
OLFML1	283298	broad.mit.edu	37	11	7530873	7530873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:7530873C>A	ENST00000329293.3	+	3	1057	c.663C>A	c.(661-663)taC>taA	p.Y221*	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.Y221*	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	221	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGTGATCTACAAAGGTTTTC	0.438000													20	13					1.28384e-07	1.77881e-07	0.012319	1	0
ARAP2	116984	broad.mit.edu	37	4	36130312	36130312	+	Silent	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:36130312T>C	ENST00000303965.4	-	21	3972	c.3483A>G	c.(3481-3483)gaA>gaG	p.E1161E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1161	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCCAGGAGTTCACTTATAT	0.328000													28	17					0	0	0.008361	0	0
LOC401127	401127	broad.mit.edu	37	4	39483089	39483089	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:39483089C>T	ENST00000513652.1	+	0	1096																											ACTGTTAAGTCCCTTTGCTCC	0.502000													20	14					0	0	0.010504	0	0
CCDC141	285025	broad.mit.edu	37	2	179736976	179736976	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179736976T>A	ENST00000420890.2	-	13	2080	c.1963A>T	c.(1963-1965)Aac>Tac	p.N655Y	CCDC141_ENST00000295723.5_Missense_Mutation_p.N80Y	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	80							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTTCTGGTTTTCCATGGTG	0.418000													31	43					0	0	0.013726	0	0
FBXO47	494188	broad.mit.edu	37	17	37119224	37119224	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:37119224G>T	ENST00000378079.2	-	2	254	c.55C>A	c.(55-57)Cgt>Agt	p.R19S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	19										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CGATTACTACGTCTAAGTTTC	0.358000													30	75					2.47316e-13	3.45581e-13	0.003271	1	0
BRINP3	339479	broad.mit.edu	37	1	190234137	190234137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:190234137C>T	ENST00000367462.3	-	4	707	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R57Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		159						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCTTCAGCTCGTTTGCTCAA	0.408000													62	2					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137928455	137928455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:137928455G>A	ENST00000409968.1	+	7	1848	c.1670G>A	c.(1669-1671)gGa>gAa	p.G557E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G557E|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526E					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)		CCTGATCATGGAAAATGTGGC	0.522000													21	28					0	0	0.010504	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589626	67589626	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:67589626T>G	ENST00000521381.1	+	11	2005	c.1389T>G	c.(1387-1389)taT>taG	p.Y463*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Y193*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Y463*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Y463*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.Y100*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Y163*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Y463*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463_L466del(1)|p.E462_R465delEYDR(1)|p.T454_D464del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTCGAGAATATGATAGATTAT	0.294000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			31	3					0	0	0.010818	0	0
ALOX12B	242	broad.mit.edu	37	17	7989361	7989361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:7989361C>T	ENST00000319144.4	-	2	585	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	109	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCAGGGTCTCGTAGCCATCC	0.607000										Multiple Myeloma(8;0.094)			23	69					0	0	0.005443	0	0
SRRM4	84530	broad.mit.edu	37	12	119540121	119540121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:119540121C>T	ENST00000267260.4	+	2	600	c.212C>T	c.(211-213)cCc>cTc	p.P71L	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	71					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCACCGAGCCCTTGGGCACC	0.542000													23	3					0	0	0.014323	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833128	34833128	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:34833128G>A	ENST00000299505.6	+	10	3162	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	763										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATCCCAGCAGCCAGCGCAGG	0.587000													118	62					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3205659	3205659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:3205659C>T	ENST00000520002.1	-	23	3887	c.3332G>A	c.(3331-3333)gGa>gAa	p.G1111E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1111E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1111E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1111E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1111	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTCATTTCCTTTGACACT	0.343000													6	31					0	0	0.001984	0	0
EYA4	2070	broad.mit.edu	37	6	133767844	133767844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:133767844G>A	ENST00000367895.5	+	4	624	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	EYA4_ENST00000355286.6_Missense_Mutation_p.E54K|EYA4_ENST00000525849.1_Missense_Mutation_p.E54K|EYA4_ENST00000355167.3_Missense_Mutation_p.E54K|EYA4_ENST00000452339.2_Missense_Mutation_p.E54K|EYA4_ENST00000431403.2_Missense_Mutation_p.E54K|EYA4_ENST00000430974.2_Missense_Mutation_p.E54K|EYA4_ENST00000531901.1_Missense_Mutation_p.E54K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	54					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCCAAACTGGAAAAATCTAA	0.438000													26	4					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9068790	9068790	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9068790T>C	ENST00000397910.4	-	3	18859	c.18656A>G	c.(18655-18657)aAc>aGc	p.N6219S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6221	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N6219I(2)|p.N1852I(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						AGAGAGAGAGTTGGCTTCTTC	0.458000													46	70					0	0	0.014410	0	0
CETP	1071	broad.mit.edu	37	16	57016084	57016084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:57016084C>T	ENST00000200676.3	+	14	1386	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CETP_ENST00000379780.2_Missense_Mutation_p.S359F|CETP_ENST00000566128.1_Missense_Mutation_p.S354F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	419					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGAGCAGCTCCGAGTCCGTC	0.582000													49	62					0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55849750	55849750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:55849750G>A	ENST00000373965.2	-	17	2406	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	PCDH15_ENST00000395432.2_Missense_Mutation_p.S627L|PCDH15_ENST00000395430.1_Missense_Mutation_p.S664L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.S664L|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S642L|PCDH15_ENST00000395445.1_Missense_Mutation_p.S671L|PCDH15_ENST00000409834.1_Missense_Mutation_p.S275L|PCDH15_ENST00000395438.1_Missense_Mutation_p.S664L|PCDH15_ENST00000373957.3_Missense_Mutation_p.S642L|PCDH15_ENST00000320301.6_Missense_Mutation_p.S664L|PCDH15_ENST00000361849.3_Missense_Mutation_p.S664L|PCDH15_ENST00000395446.1_Missense_Mutation_p.S664L|PCDH15_ENST00000414778.1_Missense_Mutation_p.S669L|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	664	Cadherin 6.				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)				TTACGTTTCTGAAAGATTAAA	0.348000										HNSCC(58;0.16)			24	4					0	0	0.003330	0	0
BRS3	680	broad.mit.edu	37	X	135572629	135572629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:135572629C>T	ENST00000370648.3	+	2	1000	c.772C>T	c.(772-774)Cat>Tat	p.H258Y		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	258					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GGAACAAAGCCATGCCCGTAA	0.383000													18	1					0	0	0.007413	0	0
C3orf30	152405	broad.mit.edu	37	3	118867037	118867037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:118867037C>T	ENST00000295622.1	+	2	1449	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	470										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GATGAATTTTCAGAAATTGAC	0.368000													41	60					0	0	0.005524	0	0
TENM3	55714	broad.mit.edu	37	4	183245358	183245358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:183245358G>A	ENST00000511685.1	+	2	308	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM3_ENST00000406950.2_Missense_Mutation_p.R62K					teneurin transmembrane protein 3									p.R62K(1)									TACGGCAACAGAGTGAAGGAT	0.473000													23	28					0	0	0.005443	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720391	140720391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140720391C>T	ENST00000394576.2	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	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)			GGACTCTTCTCGGTGGGTCTG	0.677000													53	3					0	0	0.014410	0	0
ZNF831	128611	broad.mit.edu	37	20	57768483	57768483	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:57768483G>A	ENST00000371030.2	+	1	2409	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	803						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTGGGCCCAGACTGTCCTGA	0.632000													35	29					0	0	0.005524	0	0
KIAA1328	57536	broad.mit.edu	37	18	34740253	34740253	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:34740253G>A	ENST00000591619.1	+	8	2097	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	KIAA1328_ENST00000280020.5_Silent_p.R441R|KIAA1328_ENST00000435985.2_Silent_p.R193R|KIAA1328_ENST00000543923.1_Silent_p.R333R|KIAA1328_ENST00000586135.1_Silent_p.R193R			Q86T90	K1328_HUMAN	KIAA1328	441										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GAGAGAATAGGAAGGAGAGGA	0.418000													19	26					0	0	0.007413	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535920	69535920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:69535920C>T	ENST00000338206.5	-	1	426	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	139					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CTTGTAGTTTCATCATAAGTT	0.358000													63	150					0	0	0.014410	0	0
MUC3A	4584	broad.mit.edu	37	7	100552951	100552951	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100552951C>T	ENST00000319509.7	+	2	1596	c.1596C>T	c.(1594-1596)cgC>cgT	p.R532R						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTGGGGACCGCTGTCAGCTCC	0.562000													13	130					0	0	0.003954	0	0
OR6K6	128371	broad.mit.edu	37	1	158724803	158724803	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158724803C>T	ENST00000368144.2	+	1	294	c.198C>T	c.(196-198)atC>atT	p.I66I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACGGATTTATCCTAACTGGAA	0.458000													151	6					0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28660129	28660129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:28660129C>T	ENST00000280904.6	-	10	1896	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DSC2_ENST00000251081.6_Missense_Mutation_p.E485K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	485	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTTCCCACTTCTGCATTTTCT	0.393000													29	68					0	0	0.010818	0	0
PRDM10	56980	broad.mit.edu	37	11	129817060	129817060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:129817060G>A	ENST00000358825.5	-	5	731	c.500C>T	c.(499-501)cCc>cTc	p.P167L	PRDM10_ENST00000360871.3_Missense_Mutation_p.P167L|PRDM10_ENST00000526082.1_Missense_Mutation_p.P81L|PRDM10_ENST00000304538.6_Missense_Mutation_p.P81L|PRDM10_ENST00000528746.1_Missense_Mutation_p.P141L|PRDM10_ENST00000423662.2_Missense_Mutation_p.P81L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	167					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)		TGGGTCGAAGGGCCGGGGCGG	0.577000													19	78					0	0	0.003954	0	0
NEB	4703	broad.mit.edu	37	2	152500476	152500476	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:152500476C>T	ENST00000397345.3	-	57	8014	c.7812G>A	c.(7810-7812)gtG>gtA	p.V2604V	NEB_ENST00000172853.10_Silent_p.V2604V|NEB_ENST00000604864.1_Silent_p.V2604V|NEB_ENST00000409198.1_Silent_p.V2604V|NEB_ENST00000603639.1_Silent_p.V2604V|NEB_ENST00000427231.2_Silent_p.V2604V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2604					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)		CCAGCATGTCCACTGGGCTGC	0.547000													211	286					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113163243	113163243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr9:113163243G>A	ENST00000401783.2	-	40	10049	c.9713C>T	c.(9712-9714)cCa>cTa	p.P3238L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3215L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1164L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3238	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAAGAAACTGGACTGCAAGA	0.383000													29	4					0	0	0.013726	0	0
XIRP1	165904	broad.mit.edu	37	3	39230811	39230811	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:39230811G>A	ENST00000340369.3	-	2	354	c.126C>T	c.(124-126)ttC>ttT	p.F42F	XIRP1_ENST00000396251.1_Silent_p.F42F|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	42	Interaction with VASP.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAACTTGGAGAAGGATTCCT	0.642000													32	2					0	0	0.004289	0	0
PRDM9	56979	broad.mit.edu	37	5	23523442	23523442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:23523442G>A	ENST00000296682.3	+	9	1107	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	309	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGATGGAAAAGATAAATCCTG	0.413000										HNSCC(3;0.000094)			39	66					0	0	0.014410	0	0
CNGB3	54714	broad.mit.edu	37	8	87616331	87616331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:87616331C>T	ENST00000320005.5	-	15	1818	c.1771G>A	c.(1771-1773)Gga>Aga	p.G591R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	591					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGATTTCTCCAAACACCGAC	0.383000													11	19					0	0	0.001855	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309903	89309903	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:89309903G>A	ENST00000493819.1	-	0	109																											TCCTTACCTGGGAGCCAGAGC	0.537000													69	91					0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:43826148C>T	ENST00000389420.3	-	21	3054	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000													17	38					0	0	0.004990	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922161	78922161	+	Silent	SNP	G	G	A	rs80249872		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:78922161G>A	ENST00000261751.3	-	5	597	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	162					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCTGCTGGTCGAAGGGAAAGT	0.552000													35	37					0	0	0.013726	0	0
SEPP1	6414	broad.mit.edu	37	5	42804836	42804836	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42804836G>A	ENST00000514985.1	-	4	712	c.456C>T	c.(454-456)tcC>tcT	p.S152S	SEPP1_ENST00000506577.1_Silent_p.S152S|SEPP1_ENST00000511224.1_Silent_p.S152S|SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	152					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAGTTAGGAAGGAAAAAGGCA	0.343000													11	42					0	0	0.008291	0	0
APOC3	345	broad.mit.edu	37	11	116703480	116703480	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:116703480G>A	ENST00000375345.1	+	4	296	c.233_splice	c.e4-1	p.R78_splice	APOC3_ENST00000227667.3_Splice_Site_p.R60_splice			P02656	APOC3_HUMAN	apolipoprotein C-III	60	Lipid-binding.		K -> E (in HYPALIP).		Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTGATTTAGGGGCTGGGTGA	0.552000													83	24					0	0	0.014410	0	0
TYW1B	441250	broad.mit.edu	37	7	72277945	72277945	+	RNA	SNP	C	C	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:72277945C>G	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AACATTTTTGCCAACCTGCGA	0.517000													12	72					0	0	0.002450	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	G	A	rs149076914		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:151935417G>A	ENST00000393902.3	-	3	1317	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_ENST00000370278.3_Silent_p.F250F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000													93	5					0	0	0.014410	0	0
ASGR2	433	broad.mit.edu	37	17	7017517	7017517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:7017517C>T	ENST00000380952.2	-	2	307	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	ASGR2_ENST00000355035.5_Missense_Mutation_p.E15K|ASGR2_ENST00000254850.7_Missense_Mutation_p.E15K|ASGR2_ENST00000446679.2_Missense_Mutation_p.E15K	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	15					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TGGTCATTTTCCTCCGAGCTC	0.572000													30	64					0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9046044	9046044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9046044G>A	ENST00000397910.4	-	5	35790	c.35587C>T	c.(35587-35589)Cca>Tca	p.P11863S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11865	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						GTTGAAGTTGGAATCATTGTG	0.483000													81	51					0	0	0.014410	0	0
ANKAR	150709	broad.mit.edu	37	2	190557145	190557145	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:190557145G>A	ENST00000520309.1	+	4	1291		c.e4+1		ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTTTCAGGTTTAAATGAT	0.358000													29	29					0	0	0.003755	0	0
HACL1	26061	broad.mit.edu	37	3	15610009	15610009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:15610009C>T	ENST00000321169.5	-	13	1547	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	HACL1_ENST00000457447.2_Missense_Mutation_p.V334M|HACL1_ENST00000456194.2_Missense_Mutation_p.V367M|HACL1_ENST00000451445.2_Missense_Mutation_p.V312M|HACL1_ENST00000435217.2_Missense_Mutation_p.V153M	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	394					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCACTTACCACGAAACAGTCT	0.403000													50	64					0	0	0.014410	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190680	39190680	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:39190680T>C	ENST00000344363.5	-	1	427	c.394A>G	c.(394-396)Acc>Gcc	p.T132A		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	142						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCAGGTTGGGGGTGTG	0.672000													18	38					0	0	0.004990	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953599	1953599	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:1953599G>A	ENST00000382722.5	-	25	2801	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585708.1_Silent_p.F749F|CACNA2D4_ENST00000585732.1_Silent_p.F674F|CACNA2D4_ENST00000587995.1_Silent_p.F788F|CACNA2D4_ENST00000588077.1_Silent_p.F749F|CACNA2D4_ENST00000586184.1_Silent_p.F813F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	813						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTTGAAGACGAAGCTGCCAG	0.642000													18	26					0	0	0.006122	0	0
PCDH18	54510	broad.mit.edu	37	4	138450761	138450761	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:138450761C>A	ENST00000344876.4	-	1	2868	c.2482G>T	c.(2482-2484)Gtt>Ttt	p.V828F	PCDH18_ENST00000510305.1_Missense_Mutation_p.V39F|PCDH18_ENST00000507846.1_Missense_Mutation_p.V608F|PCDH18_ENST00000412923.2_Missense_Mutation_p.V828F|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	828					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTTACCTCAACAGCAGGAGTG	0.393000													9	13					2.17888e-05	3.00085e-05	0.006214	1	0
PEG3	5178	broad.mit.edu	37	19	57325196	57325196	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:57325196G>A	ENST00000326441.9	-	10	4977	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1414A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.A1412A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1538A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1538					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACTCCCCAAAGGCATTTGCAG	0.498000													23	68					0	0	0.014323	0	0
GPR45	11250	broad.mit.edu	37	2	105858970	105858970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:105858970C>T	ENST00000258456.1	+	1	771	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	219						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CATGTGCATCCTCAACACGGT	0.677000													34	33					0	0	0.010818	0	0
LAMA3	3909	broad.mit.edu	37	18	21437841	21437841	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:21437841C>T	ENST00000313654.9	+	33	4411	c.4170C>T	c.(4168-4170)gaC>gaT	p.D1390D	LAMA3_ENST00000399516.3_Silent_p.D1390D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1390	Domain III B.|Laminin EGF-like 11.				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)	GGCAGTGTGACCGATGTGCTT	0.493000													79	45					0	0	0.014410	0	0
BCL9L	283149	broad.mit.edu	37	11	118771389	118771389	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:118771389G>A	ENST00000334801.3	-	6	4027	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1021	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTTGTTCTGGGAGACCCCCG	0.632000													33	6					0	0	0.006999	0	0
ASXL3	80816	broad.mit.edu	37	18	31325319	31325319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31325319G>A	ENST00000269197.5	+	12	5507	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1836					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						AGGACTGTAGGAGAACACACT	0.483000													147	85					0	0	0.014410	0	0
GRIK2	2898	broad.mit.edu	37	6	102337537	102337537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:102337537C>T	ENST00000369138.1	+	11	2037	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	GRIK2_ENST00000318991.6_Missense_Mutation_p.P516L|GRIK2_ENST00000421544.1_Missense_Mutation_p.P516L|GRIK2_ENST00000413795.1_Missense_Mutation_p.P516L|GRIK2_ENST00000369137.3_Missense_Mutation_p.P516L|GRIK2_ENST00000369134.4_Missense_Mutation_p.P467L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	516	Glutamate binding (By similarity).				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			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)	GCAGTTGCTCCACTGGCTATT	0.363000													58	4					0	0	0.014410	0	0
PDIA4	9601	broad.mit.edu	37	7	148703064	148703064	+	Missense_Mutation	SNP	C	C	T	rs150817731		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:148703064C>T	ENST00000286091.4	-	8	1445	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	405					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGCTTAGCATCGTTTGACACC	0.592000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	111					0	0	0.007835	0	0
MARCH9	92979	broad.mit.edu	37	12	58152541	58152541	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:58152541C>A	ENST00000266643.5	+	4	1333	c.902C>A	c.(901-903)gCt>gAt	p.A301D	MARCH9_ENST00000548358.1_Missense_Mutation_p.A188D	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	301						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGCCCCCCAGCTGCCCAGCGC	0.667000													6	7					0.00116845	0.00160348	0.001168	1	0
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:11422583C>T	ENST00000381842.3	-	0	58				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532000													32	32					0	0	0.005524	0	0
PPM1N	147699	broad.mit.edu	37	19	46005303	46005303	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:46005303A>G	ENST00000451287.2	+	5	1253	c.1253A>G	c.(1252-1254)aAc>aGc	p.N418S	PPM1N_ENST00000396735.2_Missense_Mutation_p.N100S|PPM1N_ENST00000401593.1_Missense_Mutation_p.T90A|PPM1N_ENST00000401705.1_Missense_Mutation_p.N100S|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.T87A|PPM1N_ENST00000456399.2_Missense_Mutation_p.T80A|PPM1N_ENST00000396737.2_Missense_Mutation_p.N100S	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	418							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGGAAGTCCAACCCCACGCAT	0.507000													24	17					0	0	0.004656	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224911	45224911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:45224911G>A	ENST00000279027.4	-	5	697	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC13A3_ENST00000413164.2_Silent_p.I204I|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R180C|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R180C|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Silent_p.I204I|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R180C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R180C	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	227						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGTTCCGACGATATTCATCC	0.542000													86	108					0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57325197	57325197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:57325197G>A	ENST00000326441.9	-	10	4976	c.4613C>T	c.(4612-4614)gCc>gTc	p.A1538V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1414V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1412V|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A1538V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1538					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCCCCAAAGGCATTTGCAGG	0.493000													24	70					0	0	0.002780	0	0
WDR43	23160	broad.mit.edu	37	2	29164408	29164408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:29164408C>T	ENST00000407426.3	+	15	1758	c.1702C>T	c.(1702-1704)Ctt>Ttt	p.L568F		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	568						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTTTCACACCTTCATGGAAA	0.393000													11	22					0	0	0.008291	0	0
DSP	1832	broad.mit.edu	37	6	7584183	7584183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:7584183C>T	ENST00000379802.3	+	24	7029	c.6688C>T	c.(6688-6690)Ccg>Tcg	p.P2230S	DSP_ENST00000418664.2_Missense_Mutation_p.P1631S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2230	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATATTGAGACCGTCCACTGT	0.463000													72	39					0	0	0.014410	0	0
PSG11	5680	broad.mit.edu	37	19	43523096	43523096	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43523096G>A	ENST00000401740.1	-	3	638	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PSG11_ENST00000306322.7_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCCACCACAGGTAGCTTGCG	0.512000													197	123					0	0	0.014410	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491950	37491950	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:37491950G>A	ENST00000381792.2	-	5	725	c.585C>T	c.(583-585)atC>atT	p.I195I	TMPRSS6_ENST00000406856.1_Silent_p.I195I|TMPRSS6_ENST00000346753.3_Silent_p.I204I|TMPRSS6_ENST00000442782.2_Silent_p.I204I|TMPRSS6_ENST00000406725.1_Silent_p.I195I			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	204					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACTGACCCAGGATCACTAGGC	0.647000													32	48					0	0	0.006230	0	0
ATXN2	6311	broad.mit.edu	37	12	111990718	111990718	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:111990718T>C	ENST00000377617.3	-	4	1053	c.892A>G	c.(892-894)Agt>Ggt	p.S298G	ATXN2_ENST00000550104.1_Missense_Mutation_p.S298G|ATXN2_ENST00000542287.2_Missense_Mutation_p.S33G|ATXN2_ENST00000389153.4_Missense_Mutation_p.S33G|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	298					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACCTTCGGACTGTAAGTTTTA	0.269000													28	12					0	0	0.005443	0	0
ABCB11	8647	broad.mit.edu	37	2	169828445	169828445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:169828445C>T	ENST00000263817.6	-	14	1674	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	517	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCTGCCATAGCGAATATTTTC	0.478000													61	61					0	0	0.014410	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140739802	140739802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140739802C>T	ENST00000522605.1	+	1	100	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCAGATCCGCTATTCAAT	0.612000											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	2					0	0	0.002450	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813600	100813600	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:100813600A>C	ENST00000323346.5	+	12	1746	c.1433A>C	c.(1432-1434)gAa>gCa	p.E478A	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E428A|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	478					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TAGACCCGTGAAGAATGGCAG	0.453000													26	72					0	0	0.007291	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663597	169663597	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:169663597G>A	ENST00000483289.2	-	0	3697				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TTTAAAGAGGGGAAAGACCAC	0.428000													13	6					0	0	0.013537	0	0
GDF2	2658	broad.mit.edu	37	10	48414335	48414335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:48414335C>T	ENST00000249598.1	-	2	692	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	178					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCATCTGTTCCATCCAGAAC	0.532000													24	1					0	0	0.003330	0	0
DNAH1	25981	broad.mit.edu	37	3	52412751	52412751	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:52412751C>T	ENST00000420323.2	+	47	7593	c.7332C>T	c.(7330-7332)tcC>tcT	p.S2444S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2444	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACCTCTCCAAGGTCTTCC	0.617000													84	7					0	0	0.014410	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843533	100843533	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:100843533C>T	ENST00000223114.4	-	3	436	c.270G>A	c.(268-270)agG>agA	p.R90R	MOGAT3_ENST00000379423.3_Silent_p.R90R|MOGAT3_ENST00000440203.2_Silent_p.R90R	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	90					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GATAATAATCCCTTAGTTGTC	0.557000													98	183					0	0	0.014410	0	0
GPR116	221395	broad.mit.edu	37	6	46874491	46874491	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:46874491G>A	ENST00000283296.7	-	2	297	c.9C>T	c.(7-9)tcC>tcT	p.S3S	GPR116_ENST00000265417.7_Silent_p.S3S|GPR116_ENST00000456426.2_Silent_p.S3S|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000362015.4_Silent_p.S3S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	3					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)			TTCTCCTTGGGGATTTCATGT	0.368000													41	86					0	0	0.008740	0	0
P2RY1	5028	broad.mit.edu	37	3	152553917	152553917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:152553917G>A	ENST00000305097.3	+	1	1182	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	116					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAATAAAACAGACTGGATCTT	0.493000													38	62					0	0	0.006230	0	0
PON3	5446	broad.mit.edu	37	7	94991760	94991760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:94991760G>A	ENST00000265627.5	-	8	830	c.820C>T	c.(820-822)Cct>Tct	p.P274S	PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTGTGGCAGGATCGACAGTC	0.463000													35	62					0	0	0.004878	0	0
IL37	27178	broad.mit.edu	37	2	113675337	113675337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:113675337C>T	ENST00000263326.3	+	4	433	c.391C>T	c.(391-393)Cca>Tca	p.P131S	IL37_ENST00000353225.3_Missense_Mutation_p.P91S|IL37_ENST00000311328.2_Missense_Mutation_p.P105S|IL37_ENST00000349806.3_Missense_Mutation_p.P70S|IL37_ENST00000352179.3_Missense_Mutation_p.P110S	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	131					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ACAAAGTCATCCATCCCTTCA	0.507000													64	79					0	0	0.014410	0	0
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:137717743C>T	ENST00000343735.4	+	1	167	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557000													55	57					0	0	0.014410	0	0
ZNF318	24149	broad.mit.edu	37	6	43307297	43307297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:43307297G>A	ENST00000361428.2	-	10	4516	c.4439C>T	c.(4438-4440)cCa>cTa	p.P1480L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1480	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGATACAACTGGGTTTGATTT	0.552000													38	26					0	0	0.009718	0	0
SORL1	6653	broad.mit.edu	37	11	121478880	121478880	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:121478880G>T	ENST00000260197.7	+	38	5363	c.5234G>T	c.(5233-5235)gGa>gTa	p.G1745V	SORL1_ENST00000525532.1_Missense_Mutation_p.G689V|SORL1_ENST00000532694.1_Missense_Mutation_p.G591V|SORL1_ENST00000534286.1_Missense_Mutation_p.G655V|SORL1_ENST00000527934.1_Missense_Mutation_p.G360V	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1745					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCATAAAAGGAAAAGGTAAA	0.368000													11	2					3.86212e-05	5.31272e-05	0.008291	1	0
OR4C13	283092	broad.mit.edu	37	11	49974029	49974029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:49974029C>T	ENST00000555099.1	+	1	87	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACAGAGAATCCAAAAATGCA	0.363000													22	53					0	0	0.012319	0	0
ISM1	140862	broad.mit.edu	37	20	13279935	13279935	+	Silent	SNP	C	C	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:13279935C>G	ENST00000262487.3	+	6	1230	c.1224C>G	c.(1222-1224)acC>acG	p.T408T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	408	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATCAGCACCGAGTTCTCCG	0.632000													13	10					0	0	0.001855	0	0
CCP110	9738	broad.mit.edu	37	16	19548723	19548723	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19548723G>T	ENST00000396212.2	+	5	2168	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y	CCP110_ENST00000396208.2_Missense_Mutation_p.D578Y|CCP110_ENST00000381396.5_Missense_Mutation_p.D578Y	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	578					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						ACAATTTTTGGATAACAGTTT	0.353000													56	56					1.59911e-31	2.24814e-31	0.014410	1	0
DOHH	83475	broad.mit.edu	37	19	3496633	3496633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:3496633G>C	ENST00000427575.1	-	2	631	c.180C>G	c.(178-180)taC>taG	p.Y60*	DOHH_ENST00000250937.3_Nonsense_Mutation_p.Y60*	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	60					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCAGGCAGTAGGCCAGCT	0.667000													20	31					0	0	0.010504	0	0
C14orf39	317761	broad.mit.edu	37	14	60950455	60950455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:60950455C>T	ENST00000321731.3	-	4	346	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	63										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CAGTAATGATCAATTTCCTCA	0.289000													18	21					0	0	0.007413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717495	222717495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:222717495C>T	ENST00000343410.6	-	2	416	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	120					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGGTGTTTTCGGCGTCGTAG	0.567000													224	285					0	0	0.014410	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131625	142131625	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142131625G>A	ENST00000390375.2	-	0	170																											CCAGACTTAGGAGAGCATCTC	0.527000													63	100					0	0	0.014410	0	0
TRPC3	7222	broad.mit.edu	37	4	122820791	122820791	+	Silent	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:122820791A>T	ENST00000264811.5	-	9	2722	c.2304T>A	c.(2302-2304)atT>atA	p.I768I	TRPC3_ENST00000379645.3_Silent_p.I841I|TRPC3_ENST00000513531.1_Silent_p.I713I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	756	Binds to IP3R3.				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						GCTGATTGAGAATGCTGTTAA	0.348000													31	35					0	0	0.007835	0	0
ST14	6768	broad.mit.edu	37	11	130064116	130064116	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:130064116G>A	ENST00000278742.5	+	8	1366	c.948G>A	c.(946-948)ctG>ctA	p.L316L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	316	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCATCACACTGATAACCAACA	0.612000													69	37					0	0	0.014410	0	0
NFAT5	10725	broad.mit.edu	37	16	69681273	69681273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:69681273C>T	ENST00000349945.1	+	5	1866	c.314C>T	c.(313-315)tCc>tTc	p.S105F	NFAT5_ENST00000567239.1_Missense_Mutation_p.S199F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S199F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S181F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S105F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S105F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	181					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATTCCCCCTCCAACTTCAGT	0.507000													30	40					0	0	0.008361	0	0
COL8A1	1295	broad.mit.edu	37	3	99514879	99514879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:99514879G>A	ENST00000261037.3	+	5	2514	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N	COL8A1_ENST00000273342.4_Missense_Mutation_p.D712N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGGCCCGGAGACCGGGTGTT	0.537000													20	32					0	0	0.010504	0	0
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502000													24	66					0	0	0.014323	0	0
LOC100631378	100631378	broad.mit.edu	37	19	38314522	38314522	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:38314522G>A	ENST00000592640.1	-	0	1555				CTD-2554C21.2_ENST00000590433.1_lincRNA	NR_040015.1																						GATTGTAAGGGAAGAAAAAGG	0.408000													10	4					0	0	0.002450	0	0
MTUS1	57509	broad.mit.edu	37	8	17573382	17573382	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:17573382C>T	ENST00000381869.3	-	4	2789	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	MTUS1_ENST00000381861.3_Silent_p.E73E|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000262102.6_Silent_p.E826E|MTUS1_ENST00000519263.1_Silent_p.E772E	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	771						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAGGTTTCTCCTCATATTTGA	0.378000													43	84					0	0	0.009718	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517871	158517871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:158517871C>T	ENST00000302617.3	-	1	24	c.25G>A	c.(25-27)Gat>Aat	p.D9N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTATGATTATCTACTTCCAGA	0.433000													17	75					0	0	0.004990	0	0
KCNH7	90134	broad.mit.edu	37	2	163694971	163694971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:163694971G>A	ENST00000332142.5	-	1	157	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	KCNH7_ENST00000328032.4_Missense_Mutation_p.R20W	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	20					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAAATTTCCGAATGATGGTC	0.567000													25	45					0	0	0.006320	0	0
SMR3A	26952	broad.mit.edu	37	4	71232674	71232674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:71232674C>T	ENST00000226460.4	+	3	464	c.368C>T	c.(367-369)tCt>tTt	p.S123F		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	123	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCTGTAAATTCTCCAACTGAT	0.512000													38	23					0	0	0.005524	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825991	40825991	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:40825991T>C	ENST00000293349.6	-	3	689	c.259A>G	c.(259-261)Aaa>Gaa	p.K87E	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.K87E|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.K87E			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	87					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGCAGCCCTTTCTCCGGGATG	0.622000													23	12					0	0	0.004656	0	0
GLI3	2737	broad.mit.edu	37	7	42004024	42004024	+	Silent	SNP	C	C	T	rs111446996		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:42004024C>T	ENST00000395925.3	-	15	4731	c.4647G>A	c.(4645-4647)gcG>gcA	p.A1549A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1549					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCATGGACAGCGCTGGGAATG	0.567000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				15	71					0	0	0.003163	0	0
DDN	23109	broad.mit.edu	37	12	49392428	49392428	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:49392428G>A	ENST00000421952.2	-	2	252	c.231C>T	c.(229-231)tcC>tcT	p.S77S	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	77						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCGGCTGTGGGGATCCCGGGC	0.736000													9	7					0	0	0.004482	0	0
HMP19	51617	broad.mit.edu	37	5	173531309	173531309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:173531309G>A	ENST00000303177.3	+	4	554	c.292G>A	c.(292-294)Gat>Aat	p.D98N	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1																					CTTCACCTATGATCACAGCTG	0.468000													35	48					0	0	0.004878	0	0
NLRP9	338321	broad.mit.edu	37	19	56244884	56244884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56244884C>T	ENST00000332836.2	-	2	340	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	105						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGAAATGTTTCCTTCATATGC	0.353000													20	54					0	0	0.012319	0	0
HMCN1	83872	broad.mit.edu	37	1	185984530	185984530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:185984530G>A	ENST00000271588.4	+	31	5099	c.4870G>A	c.(4870-4872)Gct>Act	p.A1624T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1624T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1624	Ig-like C2-type 13.		A -> V.		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						AGCCAATGTTGCTGGAACTGC	0.373000													26	78					0	0	0.007291	0	0
NTRK3	4916	broad.mit.edu	37	15	88476382	88476382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:88476382C>T	ENST00000394480.1	-	16	2071	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	NTRK3_ENST00000542733.2_Missense_Mutation_p.D486N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D576N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D576N|NTRK3_ENST00000360948.2_Missense_Mutation_p.D584N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D584N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D576N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	584	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCTGGAAATCCTTCCGGGCA	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			42	48					0	0	0.013114	0	0
DSG4	147409	broad.mit.edu	37	18	28970648	28970648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:28970648G>A	ENST00000359747.4	+	6	576	c.547G>A	c.(547-549)Gat>Aat	p.D183N	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D183N|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	183	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGTGCCACAGATGCAGATGA	0.393000													20	45					0	0	0.012319	0	0
PRSS1	5644	broad.mit.edu	37	7	142458528	142458528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142458528G>A	ENST00000486171.1	+	2	180	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PRSS1_ENST00000311737.7_Missense_Mutation_p.E55K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	55	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCATCAACGAACAGTGGGT	0.572000													62	136					0	0	0.014410	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083465	6083465	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:6083465C>T	ENST00000409021.3	-	6	1421	c.972G>A	c.(970-972)gaG>gaA	p.E324E	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.E324E|JAKMIP1_ENST00000410077.2_Silent_p.E159E|JAKMIP1_ENST00000409831.1_Silent_p.E324E|JAKMIP1_ENST00000409371.3_Silent_p.E159E	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	324	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACCTCGGTCTCTCGTGAGC	0.532000													62	24					0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20778677	20778677	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:20778677A>T	ENST00000404938.2	+	24	3591	c.2939A>T	c.(2938-2940)aAa>aTa	p.K980I	ABCB5_ENST00000258738.6_Missense_Mutation_p.K535I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	535					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATATTCCAAAGCCAAATCG	0.428000													5	38					0	0	0.001168	0	0
LAMC2	3918	broad.mit.edu	37	1	183197521	183197521	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:183197521A>G	ENST00000264144.4	+	11	1546	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	LAMC2_ENST00000493293.1_Missense_Mutation_p.E494G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	494	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCGCTGTGAGCTCTGTGCT	0.562000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	57					0	0	0.014410	0	0
VAT1L	57687	broad.mit.edu	37	16	78011529	78011529	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:78011529G>A	ENST00000302536.2	+	9	1350	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	399							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGAAGCAGGGGAAGAGGAGG	0.522000													32	30					0	0	0.004289	0	0
TRBV28	28559	broad.mit.edu	37	7	142428739	142428739	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:142428739G>A	ENST00000390400.2	+	0	119																											TAGTCAAAAGGACGGGAGAGA	0.473000													20	44					0	0	0.007413	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691122	39691122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39691122C>T	ENST00000339852.4	+	5	707	c.685C>T	c.(685-687)Cag>Tag	p.Q229*		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	229	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCGCTGGGTCCAGGTGAGACT	0.667000													61	44					0	0	0.014410	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77468357	77468357	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:77468357A>G	ENST00000282849.5	-	2	554	c.136T>C	c.(136-138)Tta>Cta	p.L46L	RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	46					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCACTGGCTAAGGCCGCGGCG	0.642000													5	9					0	0	0.001168	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038894	17038894	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:17038894A>G	ENST00000443236.1	-	25	3467	c.3436T>C	c.(3436-3438)Tac>Cac	p.Y1146H		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1099						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCGCTGTAGCTCTCGTCC	0.637000													19	70					0	0	0.006122	0	0
CPD	1362	broad.mit.edu	37	17	28776659	28776659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:28776659C>T	ENST00000225719.4	+	13	3038	c.2962C>T	c.(2962-2964)Cgt>Tgt	p.R988C	CPD_ENST00000543464.2_Missense_Mutation_p.R741C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	988	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.R988C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACCAAAGATTCGTTTTGTTGC	0.438000													32	112					0	0	0.010818	0	0
OR51B2	79345	broad.mit.edu	37	11	5345045	5345045	+	Silent	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5345045A>T	ENST00000328813.2	-	1	537	c.483T>A	c.(481-483)ctT>ctA	p.L161L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAATGAAAAAAGACGCAAAA	0.403000													33	17					0	0	0.010818	0	0
AOC1	26	broad.mit.edu	37	7	150556125	150556125	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:150556125C>T	ENST00000493429.1	+	5	2429	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	AOC1_ENST00000467291.1_Silent_p.I615I|AOC1_ENST00000360937.4_Silent_p.I615I|AOC1_ENST00000416793.2_Silent_p.I615I|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		AGCAGGCCATCACCTGGGCAA	0.642000													25	29					0	0	0.003954	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108180	95108180	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:95108180G>A	ENST00000469935.1	+	0	785					NR_015340.1																						CGGGGCCTGGGAGAAGGACCT	0.582000													84	123					0	0	0.014410	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19127075	19127075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19127075G>A	ENST00000381440.3	+	1	1822	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	431						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCACCTGGGAAGGTGTTTG	0.642000													109	132					0	0	0.014410	0	0
TFAP2C	7022	broad.mit.edu	37	20	55212796	55212796	+	Silent	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:55212796A>G	ENST00000201031.2	+	7	1323	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	TFAP2C_ENST00000544508.1_Silent_p.K191K	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	360	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACTGTGTAAAGAATTCACAG	0.517000													40	55					0	0	0.005524	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378592	31378592	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:31378592C>T	ENST00000297142.3	-	2	613	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	97					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CGTTCGCTTCCTGTCTCCTGA	0.488000													58	327					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139164774	139164774	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:139164774C>T	ENST00000395297.1	-	13	2114	c.1944G>A	c.(1942-1944)ctG>ctA	p.L648L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	648										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGGCTCCCTCAGGGTAGAAC	0.488000										HNSCC(54;0.14)			58	34					0	0	0.014410	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267785	125267785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:125267785C>T	ENST00000298282.9	+	7	686	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q75*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	139						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAAGGCAATCCAGGTCCTGAG	0.557000													18	5					0	0	0.010504	0	0
NUP54	53371	broad.mit.edu	37	4	77045902	77045902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:77045902G>A	ENST00000264883.3	-	9	1204	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	NUP54_ENST00000458189.2_Missense_Mutation_p.S175F|NUP54_ENST00000514987.1_Missense_Mutation_p.S307F|NUP54_ENST00000342467.6_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	355	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATATCTTCAGATATGATCTG	0.343000													8	27					0	0	0.003080	0	0
TINAG	27283	broad.mit.edu	37	6	54212256	54212256	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:54212256C>T	ENST00000259782.4	+	6	936	c.840C>T	c.(838-840)aaC>aaT	p.N280N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	280					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGCCAAGAACCGTCATGGAT	0.453000													61	36					0	0	0.014410	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668235	160668235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:160668235G>A	ENST00000366952.1	-	7	2356	c.875C>T	c.(874-876)tCt>tTt	p.S292F	SLC22A2_ENST00000366953.3_Missense_Mutation_p.S313F|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	313					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGCGGGTAGAGATTTTCCATT	0.483000													50	4					0	0	0.014410	0	0
ZNF491	126069	broad.mit.edu	37	19	11917528	11917528	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:11917528C>A	ENST00000323169.5	+	3	1091	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R254C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGCATTATCTCGCCTTATAAG	0.413000													27	17					6.32553e-13	8.82811e-13	0.004656	1	0
GHR	2690	broad.mit.edu	37	5	42719062	42719062	+	Missense_Mutation	SNP	G	G	A	rs6176	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:42719062G>A	ENST00000230882.4	+	10	1643	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	GHR_ENST00000537449.1_Missense_Mutation_p.D298N|GHR_ENST00000357703.3_Missense_Mutation_p.D463N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	485					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCAAACATCGACTTTTATGC	0.488000													41	38					0	0	0.008740	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831426	131831426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:131831426C>T	ENST00000359827.3	-	28	5860	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1633N			Q9HCM2	PLXA4_HUMAN	plexin A4	1633						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGCGGAGGCTGTCGGGGCT	0.577000													88	252					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126373063	126373063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:126373063G>A	ENST00000394329.3	+	9	10905	c.10892G>A	c.(10891-10893)gGg>gAg	p.G3631E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1929E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3631					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						TTTCCCGGTGGGATTTTAGGC	0.453000													20	36					0	0	0.007413	0	0
DNAH3	55567	broad.mit.edu	37	16	21073863	21073863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:21073863C>T	ENST00000261383.3	-	25	3659	c.3660G>A	c.(3658-3660)atG>atA	p.M1220I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M1220I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1220	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGAGCTGATCATGCCCACAA	0.443000													48	52					0	0	0.014410	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001633	41001633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:41001633G>A	ENST00000244565.3	-	3	761	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	UNC5CL_ENST00000373164.1_Missense_Mutation_p.L225F	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	225	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGTGGGAGAGGTGGATGCGA	0.607000													51	34					0	0	0.014410	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484350	123484350	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:123484350G>A	ENST00000529750.1	+	15	2109	c.1782G>A	c.(1780-1782)agG>agA	p.R594R	GRAMD1B_ENST00000322282.7_Silent_p.R594R|GRAMD1B_ENST00000456860.2_Silent_p.R601R|GRAMD1B_ENST00000450171.2_Silent_p.R285R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	594						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGGCCACAGGATCAAACATG	0.617000													11	0					0	0	0.002450	0	0
KCNH5	27133	broad.mit.edu	37	14	63447604	63447604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:63447604C>T	ENST00000322893.7	-	6	1196	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	KCNH5_ENST00000420622.2_Missense_Mutation_p.E310K|KCNH5_ENST00000394968.1_Missense_Mutation_p.E252K|KCNH5_ENST00000394964.2_Missense_Mutation_p.E252K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	310					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.E310K(1)		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)		TCCACATTTTCAAAGGCATTG	0.363000													27	22					0	0	0.006320	0	0
SGK494	124923	broad.mit.edu	37	17	26939359	26939359	+	Silent	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:26939359C>A	ENST00000301037.5	-	6	572	c.573G>T	c.(571-573)ctG>ctT	p.L191L	SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron	NM_001174103.1	NP_001167574.1																					AAAGGGAGTACAGATCTGTGC	0.517000													19	15					5.35267e-07	7.40742e-07	0.007413	1	0
UBQLNL	143630	broad.mit.edu	37	11	5536749	5536749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:5536749G>A	ENST00000380184.1	-	1	1186	c.923C>T	c.(922-924)tCt>tTt	p.S308F	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	308										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGGGGGTGAAGACTGGACTTG	0.488000													27	52					0	0	0.006320	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524177	42524177	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:42524177C>T	ENST00000381668.5	-	22	2178	c.1947_splice	c.e22+1	p.K649_splice	ATP8A1_ENST00000264449.10_Splice_Site_p.K634_splice	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	649					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)	ATCCACGTACCTTTTCAATCA	0.403000													7	30					0	0	0.004482	0	0
SYT9	143425	broad.mit.edu	37	11	7324437	7324437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:7324437G>A	ENST00000318881.6	+	2	550	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SYT9_ENST00000396716.2_Missense_Mutation_p.E73K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	105						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATGGACACAGAGACCAATGA	0.557000													47	27					0	0	0.013114	0	0
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:56538862C>T	ENST00000390649.3	+	7	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	421	NACHT.					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)		AGTCAGAGGTCGTGTCTCCCC	0.547000													5	17					0	0	0.001168	0	0
ZNF496	84838	broad.mit.edu	37	1	247473035	247473035	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:247473035G>A	ENST00000294753.4	-	7	1322	c.858C>T	c.(856-858)ctC>ctT	p.L286L	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.L322L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	286	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTTTGCCCTGGAGATCCTGCA	0.557000													26	43					0	0	0.006320	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627195	108627195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:108627195G>A	ENST00000264047.2	+	9	1897	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SLC5A7_ENST00000409059.1_Missense_Mutation_p.E541K|SLC5A7_ENST00000540517.1_Missense_Mutation_p.E436K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	541					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)	TAAATTAGATGAACTTGCACT	0.398000													10	21					0	0	0.008291	0	0
MXRA5	25878	broad.mit.edu	37	X	3229252	3229252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:3229252C>T	ENST00000217939.6	-	7	7146	c.6992G>A	c.(6991-6993)gGg>gAg	p.G2331E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2331	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCGTCCTTCCCGACCTGATT	0.537000													84	8					0	0	0.014410	0	0
YPEL3	83719	broad.mit.edu	37	16	30104120	30104120	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30104120C>T	ENST00000398841.1	-	4	1102	c.384_splice	c.e4-1	p.E129_splice	YPEL3_ENST00000566595.1_Splice_Site_p.E91_splice|YPEL3_ENST00000566134.1_Splice_Site_p.V54_splice|YPEL3_ENST00000563788.1_Splice_Site_p.E91_splice|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398838.4_Splice_Site_p.E91_splice	NM_031477.4	NP_113665.3	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	91						nucleolus				endometrium(1)|lung(2)	3						AAGGCCTGTTCCTGAAAGGAG	0.552000											OREG0023730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	31					0	0	0.006999	0	0
DUSP27	92235	broad.mit.edu	37	1	167097616	167097616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:167097616G>A	ENST00000361200.2	+	6	3414	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	DUSP27_ENST00000443333.1_Missense_Mutation_p.G1083E|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1083E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1083					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGAATTTGGAGCCAAGAGG	0.512000													36	4					0	0	0.004289	0	0
DMD	1756	broad.mit.edu	37	X	31462745	31462745	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:31462745C>T	ENST00000357033.4	-	60	9144		c.e60-1		DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000541735.1_Splice_Site	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCGAAGTGCCTGTGTGCAAT	0.448000													43	6					0	0	0.014410	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189118	26189118	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:26189118G>A	ENST00000340756.2	-	1	186	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	63					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ACATTTTCCAGGAAAACTTTC	0.577000													67	51					0	0	0.014410	0	0
STAG3	10734	broad.mit.edu	37	7	99799638	99799638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:99799638G>A	ENST00000426455.1	+	23	2775	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.D790N|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.D732N			Q9UJ98	STAG3_HUMAN	stromal antigen 3	790					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGCCTCTCAGATGTGGATAC	0.522000													106	4					0	0	0.014410	0	0
KNOP1	400506	broad.mit.edu	37	16	19721848	19721848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:19721848C>T	ENST00000219837.7	-	4	1126	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Missense_Mutation_p.E29K	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		TTCCTGGTTTCAGAAGCTTCC	0.592000													75	80					0	0	0.014410	0	0
PTPN23	25930	broad.mit.edu	37	3	47454654	47454654	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47454654C>T	ENST00000265562.4	+	25	4967	c.4890C>T	c.(4888-4890)ctC>ctT	p.L1630L	PTPN23_ENST00000431726.1_Silent_p.L1504L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1630					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGATCCACTCTGGACACTCA	0.567000													58	7					0	0	0.014410	0	0
PCDH19	57526	broad.mit.edu	37	X	99551612	99551612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:99551612C>T	ENST00000373034.4	-	6	4785	c.3110G>A	c.(3109-3111)aGg>aAg	p.R1037K	PCDH19_ENST00000420881.2_Missense_Mutation_p.R989K|PCDH19_ENST00000255531.7_Missense_Mutation_p.R990K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1037					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCGACAGTCCTCTTGCCTTT	0.597000													36	0					0	0	0.004878	0	0
LRP1B	53353	broad.mit.edu	37	2	141359104	141359104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:141359104G>A	ENST00000389484.3	-	42	7875	c.6904C>T	c.(6904-6906)Cgg>Tgg	p.R2302W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2302					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)		GCTCCAGGCCGAGTCTGGTCC	0.498000										TSP Lung(27;0.18)			43	46					0	0	0.008740	0	0
ZNF768	79724	broad.mit.edu	37	16	30536353	30536353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:30536353C>A	ENST00000380412.5	-	2	1283	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.E339*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	370					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGGGCCGCTCGTGGCTGTGG	0.642000													20	37					1.10923e-09	1.5406e-09	0.002780	1	0
IMPG2	50939	broad.mit.edu	37	3	100986365	100986365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:100986365C>T	ENST00000193391.7	-	9	1085	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	300	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGTCATTTTCCTTGGGGGAC	0.358000													37	49					0	0	0.013114	0	0
CNTN4	152330	broad.mit.edu	37	3	2777941	2777941	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:2777941G>T	ENST00000397461.1	+	4	482	c.98G>T	c.(97-99)aGt>aTt	p.S33I	CNTN4_ENST00000427331.1_Missense_Mutation_p.S33I|CNTN4_ENST00000418658.1_Missense_Mutation_p.S33I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	33	Ig-like C2-type 1.				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)		CAAGAACCAAGTCCTGTAATG	0.363000													89	131					2.179e-33	3.07089e-33	0.014410	1	0
ACTL9	284382	broad.mit.edu	37	19	8808605	8808605	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:8808605G>A	ENST00000324436.3	-	1	567	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	149						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGTGGGTCGGAGAACAGCA	0.682000													23	67					0	0	0.005443	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522189	113522189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:113522189G>A	ENST00000284601.3	-	3	939	c.871C>T	c.(871-873)Cat>Tat	p.H291Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	291					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTCCTCATGAGAACAAATG	0.308000													22	56					0	0	0.014323	0	0
MYLIP	29116	broad.mit.edu	37	6	16145501	16145501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:16145501C>T	ENST00000349606.4	+	5	1162	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	MYLIP_ENST00000356840.3_Missense_Mutation_p.P401S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	401	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CACCTTCTGTCCCTGTGGCCA	0.607000													41	134					0	0	0.008740	0	0
EVI5L	115704	broad.mit.edu	37	19	7925473	7925473	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:7925473C>T	ENST00000270530.4	+	13	1564	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	EVI5L_ENST00000538904.2_Silent_p.F467F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	456						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGAAGACTTCGTGTCCCACC	0.657000													10	4					0	0	0.010729	0	0
KIAA0319	9856	broad.mit.edu	37	6	24569076	24569076	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:24569076G>A	ENST00000535378.1	-	14	2688	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	KIAA0319_ENST00000537886.1_Silent_p.F691F|KIAA0319_ENST00000430948.2_Silent_p.F646F|KIAA0319_ENST00000543707.1_Silent_p.F691F|KIAA0319_ENST00000378214.3_Silent_p.F691F	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	691	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGTCAAACGGAAGTGGTAGG	0.542000													33	105					0	0	0.003271	0	0
LRP1B	53353	broad.mit.edu	37	2	141130601	141130601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:141130601C>T	ENST00000389484.3	-	69	11715	c.10744G>A	c.(10744-10746)Gaa>Aaa	p.E3582K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3582	LDL-receptor class A 27.				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)		TTCTCATCTTCCCCATATTTG	0.363000										TSP Lung(27;0.18)			62	83					0	0	0.014410	0	0
BIRC7	79444	broad.mit.edu	37	20	61869964	61869964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:61869964C>T	ENST00000217169.3	+	4	789	c.575C>T	c.(574-576)tCc>tTc	p.S192F	BIRC7_ENST00000395306.1_Missense_Mutation_p.S105F|BIRC7_ENST00000342412.6_Missense_Mutation_p.S192F	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	192					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GTGGCCCCCTCCGGTGAGAGC	0.657000													48	62					0	0	0.014410	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655757	138655757	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:138655757G>C	ENST00000251691.4	+	33	5940	c.5774G>C	c.(5773-5775)tGt>tCt	p.C1925S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1925					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGAGAACTGTATGGAGGAG	0.567000													15	23					0	0	0.004007	0	0
PCDH17	27253	broad.mit.edu	37	13	58240614	58240614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:58240614C>T	ENST00000377918.3	+	2	2604	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	860					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGACAATTTTCCCGCAGAGCC	0.403000													47	20					0	0	0.014410	0	0
CLRN2	645104	broad.mit.edu	37	4	17528529	17528529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:17528529C>T	ENST00000511148.2	+	3	625	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	175						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCAGGAGAAGCTCTTCCAGTT	0.552000													38	21					0	0	0.004878	0	0
ILDR1	286676	broad.mit.edu	37	3	121712685	121712685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:121712685G>A	ENST00000273691.3	-	6	884	c.779C>T	c.(778-780)cCt>cTt	p.P260L	ILDR1_ENST00000462014.1_Missense_Mutation_p.P272L|ILDR1_ENST00000344209.5_Missense_Mutation_p.P304L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.P215L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	304						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTTGAGGTCAGGGGGCAGAGG	0.582000													42	47					0	0	0.008740	0	0
UNC5D	137970	broad.mit.edu	37	8	35402028	35402028	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:35402028G>A	ENST00000453357.2	+	1	119	c.63G>A	c.(61-63)ttG>ttA	p.L21L	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTTCCTGTTGGACTTTTCCT	0.403000													45	25					0	0	0.014410	0	0
USP22	23326	broad.mit.edu	37	17	20921418	20921418	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:20921418C>A	ENST00000261497.4	-	5	730	c.527G>T	c.(526-528)cGt>cTt	p.R176L	USP22_ENST00000537526.2_Missense_Mutation_p.R164L|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	176					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GATCAGCCCACGCAGACCTGG	0.557000													41	37					1.04594e-18	1.46687e-18	0.006230	1	0
SERPINB11	89778	broad.mit.edu	37	18	61390573	61390573	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:61390573C>T	ENST00000544088.1	+	0	1181				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCTTCCTTTTCTTTATAAGGC	0.527000													70	11					0	0	0.014410	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111200	22111200	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:22111200G>A	ENST00000390423.2	+	0	92																											CAGATGTGGGGAGTTTTCCTT	0.463000													19	29					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82784917	82784917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:82784917C>T	ENST00000423517.2	-	2	1377	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	PCLO_ENST00000333891.8_Missense_Mutation_p.G347E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	320	Gln-rich.|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						TTTCACTGTCCCTGGTTGTTG	0.587000													22	31					0	0	0.014323	0	0
GALNT14	79623	broad.mit.edu	37	2	31135116	31135116	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:31135116G>A	ENST00000349752.5	-	14	2112	c.1473C>T	c.(1471-1473)gtC>gtT	p.V491V	GALNT14_ENST00000420311.2_Silent_p.V456V|GALNT14_ENST00000406653.1_Silent_p.V471V|GALNT14_ENST00000324589.5_Silent_p.V496V|GALNT14_ENST00000356174.3_Silent_p.V458V|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	491	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCTTGCAAAGGACAAGAACCA	0.562000													59	71					0	0	0.014410	0	0
ART1	417	broad.mit.edu	37	11	3681025	3681025	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:3681025G>A	ENST00000250693.1	+	3	377	c.276G>A	c.(274-276)agG>agA	p.R92R		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	92					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GTCAGGCCAGGTGGCCAGAGT	0.652000													15	15					0	0	0.004990	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721273	66721273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:66721273G>A	ENST00000360242.5	+	8	1558	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D481N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	481										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGCTTGATGATTCCCTGAA	0.368000													61	5					0	0	0.014410	0	0
SRL	6345	broad.mit.edu	37	16	4254547	4254547	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:4254547G>A	ENST00000399609.3	-	2	162	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SRL_ENST00000537996.1_Silent_p.S8S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	509	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.S50S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGTAGTCATCGGATGGCTTGT	0.602000													62	69					0	0	0.014410	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911444	39911444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:39911444C>T	ENST00000425673.1	+	13	1676	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P451S|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P451S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P451S|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P392S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTTGGGTCTCCTCGACCTCG	0.562000													32	56					0	0	0.004289	0	0
CACNG4	27092	broad.mit.edu	37	17	65021058	65021058	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:65021058G>A	ENST00000262138.3	+	3	389	c.387G>A	c.(385-387)agG>agA	p.R129R		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	129					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GTGCTGGCAGGATCTACAGCC	0.687000													62	70					0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	21011761	21011761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:21011761G>A	ENST00000261383.3	-	43	6205	c.6206C>T	c.(6205-6207)cCa>cTa	p.P2069L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2069	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAACAGCATTGGAATCTCATG	0.493000													40	38					0	0	0.006999	0	0
TENM1	10178	broad.mit.edu	37	X	123556329	123556329	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:123556329G>A	ENST00000422452.2	-	24	4327	c.4264C>T	c.(4264-4266)Ctg>Ttg	p.L1422L	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Silent_p.L1415L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGCTGACCAGGAAATGATCG	0.527000													53	3					0	0	0.014410	0	0
SLC2A3	6515	broad.mit.edu	37	12	8075454	8075454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:8075454G>A	ENST00000075120.7	-	9	1475	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	412					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAGGAAGTTGGAGGTCCAGTT	0.537000													50	62					0	0	0.014410	0	0
NCAM1	4684	broad.mit.edu	37	11	113102986	113102986	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:113102986G>A	ENST00000316851.7	+	10	1305	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	NCAM1_ENST00000401611.2_Silent_p.T444T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.T317T	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	445	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGTGCCACGATCTCATGGT	0.547000													21	4					0	0	0.010504	0	0
CDH5	1003	broad.mit.edu	37	16	66434765	66434765	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:66434765G>A	ENST00000539168.1	+	0	834				CDH5_ENST00000341529.3_Silent_p.G561G			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)						adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGACAATGGGATGCCAAGTC	0.582000													68	61					0	0	0.014410	0	0
ACY3	91703	broad.mit.edu	37	11	67413303	67413303	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:67413303G>T	ENST00000255082.3	-	4	462	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	98					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCCAGCAGCTGGTTCAGCTCT	0.607000													70	51					2.6465e-34	3.73433e-34	0.014410	1	0
NOL4	8715	broad.mit.edu	37	18	31537398	31537398	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:31537398G>A	ENST00000261592.5	-	8	1617	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	NOL4_ENST00000538587.1_Silent_p.I366I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.I155I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	440						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATGAGTCAATGATAGCCTGGA	0.468000													10	32					0	0	0.006214	0	0
RNF17	56163	broad.mit.edu	37	13	25353881	25353881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:25353881G>A	ENST00000255324.5	+	5	558	c.506G>A	c.(505-507)gGa>gAa	p.G169E	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.G169E|RNF17_ENST00000255325.5_Missense_Mutation_p.G169E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	169					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCATTGCTGGAAAAGTAAGC	0.383000													16	45					0	0	0.006122	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383112	41383112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:41383112C>T	ENST00000301146.4	-	7	1685	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	CYP2A7_ENST00000291764.3_Missense_Mutation_p.D331N|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	382						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGAAAAAATCCCGAAACTTG	0.532000													69	36					0	0	0.014410	0	0
CYYR1	116159	broad.mit.edu	37	21	27852695	27852695	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:27852695A>G	ENST00000299340.4	-	3	573	c.230T>C	c.(229-231)aTt>aCt	p.I77T	AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Missense_Mutation_p.I77T	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	77						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AATCCCAGCAATGACCCCCAT	0.468000													54	63					0	0	0.014410	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805234	106805234	+	RNA	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106805234T>C	ENST00000438142.2	-	0	400																											CACGGCCGTGTCCGCGGCAGT	0.582000													118	242					0	0	0.014410	0	0
C8B	732	broad.mit.edu	37	1	57417853	57417853	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:57417853C>T	ENST00000543257.1	-	6	944	c.377_splice	c.e6-1	p.G126_splice	C8B_ENST00000535057.1_Splice_Site_p.G116_splice|C8B_ENST00000371237.4_Splice_Site_p.G178_splice	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	178	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAAATTTATCCTGTGAGGAA	0.448000													61	6					0	0	0.014410	0	0
ZNF560	147741	broad.mit.edu	37	19	9577336	9577336	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:9577336T>A	ENST00000301480.4	-	10	2500	c.2287A>T	c.(2287-2289)Atg>Ttg	p.M763L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCTCTCCCATATGAGTTCTT	0.443000													40	26					0	0	0.005524	0	0
DDX60L	91351	broad.mit.edu	37	4	169374347	169374347	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr4:169374347G>A	ENST00000511577.1	-	8	1171	c.924C>T	c.(922-924)ccC>ccT	p.P308P	DDX60L_ENST00000260184.7_Silent_p.P308P|DDX60L_ENST00000505890.1_Silent_p.P308P			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	308							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGAGAAAGGGGTAAGTGGA	0.413000													21	24					0	0	0.012319	0	0
FER1L6	654463	broad.mit.edu	37	8	124982334	124982334	+	Silent	SNP	C	C	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:124982334C>A	ENST00000522917.1	+	6	650	c.444C>A	c.(442-444)atC>atA	p.I148I	FER1L6_ENST00000399018.1_Silent_p.I148I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	148	C2 1.					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)			TCATCAAAATCTCCGTAAGTA	0.443000													24	53					3.73148e-12	5.20145e-12	0.007291	1	0
CC2D1A	54862	broad.mit.edu	37	19	14029983	14029983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:14029983C>T	ENST00000318003.7	+	11	1431	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A397V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	397					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGCCGAGCCGTGGATGTC	0.711000													7	14					0	0	0.004482	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:108690227G>A	ENST00000232603.5	-	25	2582	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_ENST00000483760.1_Missense_Mutation_p.P813S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000													29	48					0	0	0.006320	0	0
OR5B3	441608	broad.mit.edu	37	11	58170430	58170430	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:58170430G>A	ENST00000309403.2	-	1	452	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGCATTCAGGAAACCACAGA	0.478000													18	53					0	0	0.008871	0	0
IFI27	3429	broad.mit.edu	37	14	94582839	94582839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:94582839C>T	ENST00000555744.1	+	5	523	c.335C>T	c.(334-336)gCg>gTg	p.A112V	IFI27_ENST00000298902.5_Missense_Mutation_p.A112V|IFI27_ENST00000444961.1_Missense_Mutation_p.A115V|IFI27_ENST00000557098.1_Missense_Mutation_p.A67V|IFI27_ENST00000448882.1_Missense_Mutation_p.A115V|IFI27_ENST00000557634.1_Missense_Mutation_p.A102V			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	112					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TCTGCCATTGCGGCTGTCATT	0.602000													10	30					0	0	0.010729	0	0
PLCE1	51196	broad.mit.edu	37	10	95848999	95848999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:95848999G>A	ENST00000371375.1	+	1	148	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	PLCE1_ENST00000371385.3_Missense_Mutation_p.E50K|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371380.2_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAGGAGAGGGAAGCAGGCTG	0.532000													84	14					0	0	0.014410	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855005	51855005	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:51855005T>C	ENST00000453097.2	+	9	1248	c.1031T>C	c.(1030-1032)tTg>tCg	p.L344S	SLC4A8_ENST00000394856.1_Missense_Mutation_p.L291S|SLC4A8_ENST00000535225.2_Missense_Mutation_p.L291S|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L371S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L291S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	344					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)		TTTATCTTATTGGGTCCAGTA	0.393000													27	450					0	0	0.009535	0	0
DNAH11	8701	broad.mit.edu	37	7	21788221	21788221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:21788221G>A	ENST00000328843.6	+	53	8586	c.8555G>A	c.(8554-8556)cGa>cAa	p.R2852Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2845Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2852	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGGATCTTACGAACCCCTCAG	0.522000									Kartagener syndrome				24	37					0	0	0.002780	0	0
PDZD2	23037	broad.mit.edu	37	5	31799756	31799756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:31799756G>A	ENST00000438447.1	+	2	789	c.401G>A	c.(400-402)gGg>gAg	p.G134E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G134E			O15018	PDZD2_HUMAN	PDZ domain containing 2	134	PDZ 1.				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						GGGAAGAGTGGGAAGGTCCGA	0.592000													43	80					0	0	0.008740	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641740	106641740	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:106641740C>T	ENST00000390605.2	-	0	232																											GTCCAGGGGCCTGTCGCACCC	0.547000													96	139					0	0	0.014410	0	0
FGFR4	2264	broad.mit.edu	37	5	176522718	176522718	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:176522718C>T	ENST00000292408.4	+	13	2060	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	FGFR4_ENST00000502906.1_Silent_p.S605S|FGFR4_ENST00000393648.2_Silent_p.S537S|FGFR4_ENST00000292410.3_Silent_p.S565S|FGFR4_ENST00000393637.1_Silent_p.S565S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	605	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ATCTGGAGTCCCGGAAGGTAC	0.637000										TSP Lung(9;0.080)			8	18					0	0	0.004482	0	0
DUSP13	51207	broad.mit.edu	37	10	76855365	76855365	+	Missense_Mutation	SNP	C	C	T	rs146266949	byFrequency	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:76855365C>T	ENST00000491677.2	-	7	1291	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	DUSP13_ENST00000372700.3_Missense_Mutation_p.R171Q|DUSP13_ENST00000478873.2_Missense_Mutation_p.R257Q|DUSP13_ENST00000607131.1_Missense_Mutation_p.R214Q|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000605915.1_Missense_Mutation_p.R143Q|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.R121Q	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	112						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCGGATGTATCGAGCAACAGG	0.542000													43	5					0	0	0.011902	0	0
ZNF3	7551	broad.mit.edu	37	7	99669472	99669472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:99669472G>A	ENST00000303915.6	-	5	1602	c.635C>T	c.(634-636)aCt>aTt	p.T212I	ZNF3_ENST00000424697.1_Missense_Mutation_p.T212I|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.T212I			P17036	ZNF3_HUMAN	zinc finger protein 3	212					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T212I(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGGTCTGAAGTTCGATTAAA	0.458000													46	77					0	0	0.013114	0	0
SYT10	341359	broad.mit.edu	37	12	33559894	33559894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:33559894G>A	ENST00000228567.3	-	3	1203	c.907C>T	c.(907-909)Cct>Tct	p.P303S	SYT10_ENST00000535526.1_Missense_Mutation_p.P122S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	303	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATGCTACAGGAAATTGAAAA	0.348000													22	48					0	0	0.012319	0	0
ABCA13	154664	broad.mit.edu	37	7	48522729	48522729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr7:48522729G>A	ENST00000435803.1	+	47	13175	c.13151G>A	c.(13150-13152)gGa>gAa	p.G4384E	ABCA13_ENST00000544596.1_Missense_Mutation_p.G114E	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4384					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTGCAAATGGAAACATATCA	0.353000													15	22					0	0	0.003163	0	0
IL18R1	8809	broad.mit.edu	37	2	103013101	103013101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:103013101C>T	ENST00000409599.1	+	12	1737	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y	IL18R1_ENST00000233957.1_Missense_Mutation_p.H461Y			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	461	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAGTGGACTCCATGAAGCATT	0.343000													29	26					0	0	0.005443	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321007	154321007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:154321007C>T	ENST00000368489.3	+	27	3386	c.3386C>T	c.(3385-3387)tCc>tTc	p.S1129F		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGGATCTCTCCGACACGGTG	0.617000													43	37					0	0	0.014410	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr18:29038468G>A	ENST00000257189.4	+	4	360	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	93	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGGGAATCGATCAGCCGCC	0.443000													48	31					0	0	0.014410	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													4	93					0	0	0.009096	0	0
FRG2B	441581	broad.mit.edu	37	10	135440179	135440179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr10:135440179G>A	ENST00000443774.1	-	1	117	c.68C>T	c.(67-69)cCt>cTt	p.P23L	FRG2B_ENST00000425520.1_Missense_Mutation_p.P23L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	23						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGTTGGAAAGGGGGCTGGTC	0.498000													16	196					0	0	0.002780	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094558	26094558	+	RNA	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:26094558G>A	ENST00000478176.1	-	0	106					NR_003678.1																						TACAGAGTGAGGAGGATAATG	0.413000													5	16					0	0	0.001984	0	0
CD33	945	broad.mit.edu	37	19	51738439	51738439	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:51738439T>C	ENST00000436584.2	+	4	447	c.392T>C	c.(391-393)gTt>gCt	p.V131A	CD33_ENST00000262262.4_Missense_Mutation_p.V258A|CD33_ENST00000421133.2_Missense_Mutation_p.V131A|CD33_ENST00000391796.3_Missense_Mutation_p.V258A			P20138	CD33_HUMAN	CD33 molecule	258	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCAGGAGTGGTTCATGGGGCC	0.493000													47	33					0	0	0.014410	0	0
PSG4	5672	broad.mit.edu	37	19	43708384	43708384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:43708384C>T	ENST00000405312.3	-	2	321	c.84G>A	c.(82-84)tgG>tgA	p.W28*	PSG4_ENST00000433626.2_Nonsense_Mutation_p.W28*|PSG4_ENST00000244295.9_Nonsense_Mutation_p.W28*	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	28					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGCGGATTCCAGAAGTTTA	0.463000													79	44					0	0	0.014410	0	0
CAD	790	broad.mit.edu	37	2	27447254	27447254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:27447254C>T	ENST00000264705.4	+	9	1312	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CAD_ENST00000403525.1_Missense_Mutation_p.P384S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	384	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGGGATTCCCACTCCCGG	0.572000													58	70					0	0	0.014410	0	0
SCAP	22937	broad.mit.edu	37	3	47459206	47459206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47459206G>A	ENST00000265565.5	-	17	2970	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	SCAP_ENST00000441517.2_Missense_Mutation_p.P597L|SCAP_ENST00000545718.1_Missense_Mutation_p.P460L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	853	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTGTCTCAGGGGAGGGCTGTC	0.662000													39	2					0	0	0.006230	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573850	90573850	+	RNA	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:90573850C>T	ENST00000551025.1	+	0	3859							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GCCTTGCTTACCTAAAGAGAC	0.398000													73	10					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179665255	179665255	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179665255G>A	ENST00000589042.1	-	4	674	c.450C>T	c.(448-450)ttC>ttT	p.F150F	TTN_ENST00000360870.5_Silent_p.F150F|TTN_ENST00000591111.1_Silent_p.F150F|TTN_ENST00000359218.5_Silent_p.F150F|TTN_ENST00000460472.2_Silent_p.F150F|TTN_ENST00000342992.6_Silent_p.F150F|TTN_ENST00000342175.6_Silent_p.F150F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	150	Ig-like 2.						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)			GTGAAATTTGGAAATCAAGGG	0.488000													89	84					0	0	0.014410	0	0
FUT8	2530	broad.mit.edu	37	14	66200026	66200026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr14:66200026C>T	ENST00000360689.5	+	10	3064	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	FUT8_ENST00000358307.2_Missense_Mutation_p.S317L|FUT8_ENST00000557164.1_Missense_Mutation_p.S283L|FUT8_ENST00000394585.1_Missense_Mutation_p.S446L|FUT8_ENST00000417683.1_Missense_Mutation_p.S40L|FUT8_ENST00000394586.2_Missense_Mutation_p.S446L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	446					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGAAAATTCACTTCGTGGA	0.358000													45	74					0	0	0.013114	0	0
GFAP	2670	broad.mit.edu	37	17	42988735	42988735	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:42988735C>T	ENST00000253408.5	-	6	1061	c.996G>A	c.(994-996)gaG>gaA	p.E332E	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.E332E|GFAP_ENST00000435360.2_Silent_p.E332E	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	332	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCCCCTCTTCCTCCAGCCGCG	0.652000													32	20					0	0	0.010818	0	0
DYSF	8291	broad.mit.edu	37	2	71896828	71896828	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:71896828C>T	ENST00000258104.3	+	50	5896	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	DYSF_ENST00000409744.1_Silent_p.F1881F|DYSF_ENST00000410020.3_Silent_p.F1912F|DYSF_ENST00000413539.2_Silent_p.F1904F|DYSF_ENST00000409366.1_Silent_p.F1895F|DYSF_ENST00000409762.1_Silent_p.F1890F|DYSF_ENST00000409582.3_Silent_p.F1911F|DYSF_ENST00000410041.1_Silent_p.F1891F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.F1874F|DYSF_ENST00000409651.1_Silent_p.F1905F|DYSF_ENST00000429174.2_Silent_p.F1894F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1873						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGTTCATTTTCCCCTTCGACT	0.493000													44	74					0	0	0.010771	0	0
BNC1	646	broad.mit.edu	37	15	83926808	83926808	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:83926808A>T	ENST00000345382.2	-	5	2456	c.2371T>A	c.(2371-2373)Ttc>Atc	p.F791I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.F784I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	791					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGCACGGAAATGATCTTCA	0.448000													64	58					0	0	0.014410	0	0
NAV2	89797	broad.mit.edu	37	11	19967990	19967990	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:19967990C>T	ENST00000396085.1	+	9	2551	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	NAV2_ENST00000396087.3_Silent_p.I753I|NAV2_ENST00000540292.1_Silent_p.I684I|NAV2_ENST00000349880.4_Silent_p.I730I|NAV2_ENST00000360655.4_Silent_p.I666I|NAV2_ENST00000527559.2_Silent_p.I682I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	753						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						TGAAGAACATCGCTGATCTGC	0.463000													11	10					0	0	0.008291	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958854	50958854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:50958854G>A	ENST00000357701.5	+	20	2342	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	764	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AACAGGATCGGGGCAGGTGGC	0.612000													19	51					0	0	0.008871	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:68172103C>T	ENST00000243457.3	+	2	1306	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463000													25	71					0	0	0.003954	0	0
SSTR2	6752	broad.mit.edu	37	17	71166318	71166318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:71166318C>T	ENST00000357585.2	+	2	1229	c.860C>T	c.(859-861)aCc>aTc	p.T287I	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.T287I	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	287					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCAGCCCCACCCCAGCCCTT	0.507000													51	60					0	0	0.014410	0	0
OR5H14	403273	broad.mit.edu	37	3	97869076	97869076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:97869076C>T	ENST00000437310.1	+	1	907	c.847C>T	c.(847-849)Cct>Tct	p.P283S		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCATAGTTCCTTTATTAAA	0.373000													18	18					0	0	0.006122	0	0
ZNF707	286075	broad.mit.edu	37	8	144776491	144776491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr8:144776491C>T	ENST00000532205.1	+	8	1806	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	ZNF707_ENST00000532158.1_Missense_Mutation_p.L303F|ZNF707_ENST00000418203.2_Missense_Mutation_p.L303F|ZNF707_ENST00000358656.4_Missense_Mutation_p.L303F|ZNF707_ENST00000454097.1_Missense_Mutation_p.L303F			Q96C28	ZN707_HUMAN	zinc finger protein 707	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAGGAGAACCTCAGCCACCA	0.642000													8	12					0	0	0.004482	0	0
RBL1	5933	broad.mit.edu	37	20	35695483	35695483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:35695483G>A	ENST00000373664.3	-	5	664	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	RBL1_ENST00000344359.3_Missense_Mutation_p.H200Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	200					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGTAAATGATAAGAGTTT	0.328000													48	52					0	0	0.014410	0	0
SP6	80320	broad.mit.edu	37	17	45924926	45924926	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:45924926G>T	ENST00000536300.1	-	2	1201	c.870C>A	c.(868-870)ttC>ttA	p.F290L	SP6_ENST00000342234.2_Missense_Mutation_p.F290L	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GCTTGCCGCAGAAGAGCCAGT	0.662000													15	42					4.7546e-09	6.59565e-09	0.004007	1	0
LAT	27040	broad.mit.edu	37	16	28997938	28997938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr16:28997938C>T	ENST00000360872.5	+	6	466	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	LAT_ENST00000564277.1_Intron|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_Intron|LAT_ENST00000354453.4_Missense_Mutation_p.P120S|LAT_ENST00000454369.2_Intron|LAT_ENST00000395456.2_Intron|LAT_ENST00000395461.3_Intron|LAT_ENST00000566177.1_Missense_Mutation_p.P129S			O43561	LAT_HUMAN	linker for activation of T cells	130					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				AGTCTGGGGTCCGTCCTGGAC	0.612000													30	34					0	0	0.007291	0	0
PALMD	54873	broad.mit.edu	37	1	100155290	100155290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:100155290G>A	ENST00000263174.4	+	7	1849	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	PALMD_ENST00000605497.1_Missense_Mutation_p.E492K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	492					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)		TAGTCCTCATGAAAACACAAA	0.463000													22	3					0	0	0.002780	0	0
DSTYK	25778	broad.mit.edu	37	1	205138813	205138813	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr1:205138813T>A	ENST00000367162.3	-	3	832	c.802A>T	c.(802-804)Atc>Ttc	p.I268F	DSTYK_ENST00000367160.4_Missense_Mutation_p.I268F|DSTYK_ENST00000367161.3_Missense_Mutation_p.I268F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	268						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTTTCGGATTTCCTGAAGC	0.448000													31	32					0	0	0.007291	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711920	140711920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:140711920G>A	ENST00000517417.1	+	1	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D557N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCAGAACGACAACGCGCC	0.642000													110	12					0	0	0.014410	0	0
MYH1	4619	broad.mit.edu	37	17	10399748	10399748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:10399748C>T	ENST00000226207.5	-	34	4869	c.4775G>A	c.(4774-4776)aGa>aAa	p.R1592K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1592						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1592K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTGGTTTCTCTTCATCTG	0.463000													43	105					0	0	0.008740	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189119	26189119	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:26189119G>A	ENST00000340756.2	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CATTTTCCAGGAAAACTTTCA	0.577000													65	50					0	0	0.014410	0	0
KCNH6	81033	broad.mit.edu	37	17	61601708	61601708	+	Silent	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr17:61601708C>T	ENST00000583023.1	+	2	296	c.285C>T	c.(283-285)gaC>gaT	p.D95D	KCNH6_ENST00000456941.2_Silent_p.D95D|KCNH6_ENST00000314672.5_Silent_p.D95D|KCNH6_ENST00000581784.1_Silent_p.D95D|KCNH6_ENST00000580652.1_Silent_p.D95D	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	95	PAC.				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)	GCAAGGTGGACATCCTCTACT	0.637000													32	39					0	0	0.010818	0	0
SCN10A	6336	broad.mit.edu	37	3	38748773	38748773	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:38748773G>A	ENST00000449082.2	-	25	4382	c.4383C>T	c.(4381-4383)ccC>ccT	p.P1461P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1461					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)	GGCTCACCAGGGGCCGTGGGA	0.547000													92	8					0	0	0.014410	0	0
ZNF569	148266	broad.mit.edu	37	19	37903866	37903866	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:37903866A>G	ENST00000316950.6	-	6	2251	c.1694T>C	c.(1693-1695)cTt>cCt	p.L565P	ZNF569_ENST00000392150.2_Missense_Mutation_p.L406P|ZNF569_ENST00000392149.2_Missense_Mutation_p.L565P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTAAATTAAGCAGTGAGCA	0.403000													28	62					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179472789	179472789	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:179472789G>A	ENST00000589042.1	-	276	52949	c.52725C>T	c.(52723-52725)atC>atT	p.I17575I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.I15934I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I8635I|TTN_ENST00000460472.2_Silent_p.I8510I|TTN_ENST00000342992.6_Silent_p.I15007I|TTN_ENST00000342175.6_Silent_p.I8702I|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15934	Fibronectin type-III 27.						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)			TGACTCTTGGGATAGGTGGCC	0.423000													12	17					0	0	0.010729	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935686	151935686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chrX:151935686C>T	ENST00000393902.3	-	3	1048	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V161I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	161	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCAAAGACCAGCTGCAAG	0.542000													63	3					0	0	0.014410	0	0
PFKM	5213	broad.mit.edu	37	12	48501918	48501918	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:48501918A>G	ENST00000340802.6	+	3	370	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACATCTTGAAGAGTCTAGAT	0.463000													91	40					0	0	0.014410	0	0
GLI2	2736	broad.mit.edu	37	2	121745795	121745795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:121745795G>A	ENST00000452319.1	+	14	2365	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	GLI2_ENST00000314490.11_Missense_Mutation_p.E441K|GLI2_ENST00000361492.4_Missense_Mutation_p.E769K			P10070	GLI2_HUMAN	GLI family zinc finger 2	769					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCATCCTGGAAAACTTCAG	0.687000													25	17					0	0	0.002780	0	0
TRPC4	7223	broad.mit.edu	37	13	38266355	38266355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:38266355G>A	ENST00000379705.3	-	4	1872	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TRPC4_ENST00000426868.2_Missense_Mutation_p.L339F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L339F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L166F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L339F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L339F|TRPC4_ENST00000338947.5_Missense_Mutation_p.L166F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L339F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L339F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	339					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAGGAAAAAGAAGTCCTATT	0.478000													45	16					0	0	0.011902	0	0
TREML2	79865	broad.mit.edu	37	6	41165918	41165918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:41165918C>T	ENST00000483722.1	-	2	490	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	102	Ig-like V-type.				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)					GCACCAGTATCGGCCTGAGTC	0.617000													61	61					0	0	0.014410	0	0
SMC1B	27127	broad.mit.edu	37	22	45804690	45804690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr22:45804690C>T	ENST00000357450.4	-	2	198	c.199G>A	c.(199-201)Gga>Aga	p.G67R	SMC1B_ENST00000404354.3_Missense_Mutation_p.G67R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	67					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATATGTGCTCCATGAATGAGT	0.343000													40	72					0	0	0.006999	0	0
KLHL18	23276	broad.mit.edu	37	3	47374698	47374698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:47374698C>T	ENST00000232766.5	+	5	672	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	KLHL18_ENST00000455924.2_Missense_Mutation_p.P106S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	218	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)		GCAGAGGGGTCCCTACCTGCC	0.592000													52	3					0	0	0.014410	0	0
FLT3	2322	broad.mit.edu	37	13	28609648	28609648	+	Silent	SNP	G	G	A			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:28609648G>A	ENST00000380982.4	-	12	1662	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	FLT3_ENST00000537084.1_Silent_p.I527I|FLT3_ENST00000241453.7_Silent_p.I527I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	527					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTTAAAAGGATCGTCTCAC	0.453000			"""Mis, O"""		"""AML, ALL"""								17	79					0	0	0.014323	0	0
APOB	338	broad.mit.edu	37	2	21235311	21235312	+	Frame_Shift_Ins	INS	-	-	T	rs121918389		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr2:21235311_21235312insT	ENST00000233242.1	-	26	4555_4556	c.4428_4429insA	c.(4426-4431)aaagcafs	p.A1477fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1477					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)	AACAAATGCTGTTTCTTTTTGG	0.421													10	817	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													8	4	---	---	---	---					
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr5:64023941delT	ENST00000513458.4	-	4	438	c.271delA	c.(271-273)ggfs	p.R91fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264													3	3	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10586829	10586830	+	Frame_Shift_Ins	INS	-	-	TAGTT			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr6:10586829_10586830insTAGTT	ENST00000265012.4	+	1	851_852	c.607_608insTAGTT	c.(607-609)agtfs	p.S203fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	203						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CAACCGGGAGATAGTTCAGCAT	0.480													85	102	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													7	5	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													6	4	---	---	---	---					
KRT72	140807	broad.mit.edu	37	12	52979779	52979779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:52979779delT	ENST00000293745.2	-	9	1608	c.1523delA	c.(1522-1524)agfs	p.K508fs	KRT72_ENST00000537672.2_Frame_Shift_Del_p.K508fs|KRT72_ENST00000354310.4_Frame_Shift_Del_p.K466fs|KRT72_ENST00000398066.3_Frame_Shift_Del_p.K320fs	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	508	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCTGGAGGCCTTTTTGGTGGC	0.562													9	2217	---	---	---	---					
ZNF385A	25946	broad.mit.edu	37	12	54764789	54764789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:54764789delT	ENST00000546970.1	-	7	985	c.696delA	c.(694-696)ccfs	p.P232fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Frame_Shift_Del_p.P171fs|ZNF385A_ENST00000551771.1_Frame_Shift_Del_p.P151fs|ZNF385A_ENST00000394313.2_Frame_Shift_Del_p.P232fs|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Frame_Shift_Del_p.P232fs|ZNF385A_ENST00000338010.5_Frame_Shift_Del_p.P252fs			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGAGCCTCTGGTTCCCCCG	0.602													58	165	---	---	---	---					
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs72177573	by1000genomes	TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000356219.3	-	38	5693_5694	c.5538_5539insAGCAGCGGC	c.(5536-5541)gggggg>ggAGCAGCGGCgggg	p.1846_1847GG>GAAAG	NCOR2_ENST00000429285.2_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000405201.1_In_Frame_Ins_p.1839_1840GG>GAAAG|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1400_1401GG>GAAAG|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1830_1831GG>GAAAG	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1850					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713													12	31	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)cag>ca	p.HQ108del	RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													2	4	---	---	---	---					
RNF219	79596	broad.mit.edu	37	13	79213018	79213018	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr13:79213018delT	ENST00000282003.6	-	4	547	c.489delA	c.(487-489)aafs	p.K163fs		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	163							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CTGTTCTGAGTTTTTTCTTCC	0.338													86	48	---	---	---	---					
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1																						AGCAGCTCCGAGAAGATGAACTC	0.611													7	22	---	---	---	---					
ZNF628	89887	broad.mit.edu	37	19	55993019	55993019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr19:55993019delC	ENST00000598519.1	+	3	1012	c.459delC	c.(457-459)tgfs	p.C153fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.C149fs	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	149						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCCGGACTGCCCCAAGGCCT	0.667													14	29	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61537163	61537173	+	Frame_Shift_Del	DEL	CCTGGACAGGC	CCTGGACAGGC	-			TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr20:61537163_61537173delCCTGGACAGGC	ENST00000370371.4	-	6	2009_2019	c.1654_1664delGCCTGTCCAGG	c.(1654-1665)afs	p.ACPG552fs	DIDO1_ENST00000370368.1_Frame_Shift_Del_p.ACPG552fs|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000354665.4_Frame_Shift_Del_p.ACPG552fs|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000395340.1_Intron	NM_022105.4	NP_071388.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTCCCAGTCCTGGACAGGCCCAGGGGATG	0.578													37	66	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-EE-A20H-06A-11D-A197-08	TCGA-EE-A20H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	faaf73dd-2aad-4dfb-a0c7-9ba17ad0ce9c	1915655b-9581-403c-90ca-e599b8265e2f	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)cgc>cCAGCTGCTGCGCCCCgc	p.48_49insPAAAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	48	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													8	32	---	---	---	---