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
GJC1	10052	broad.mit.edu	37	17	42882796	42882796	+	Silent	SNP	C	C	T	rs45478503	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:42882796C>T	ENST00000426548.1	-	3	659	c.390G>A	c.(388-390)acG>acA	p.T130T	GJC1_ENST00000590758.1_Silent_p.T130T|GJC1_ENST00000330514.4_Silent_p.T130T|GJC1_ENST00000592524.1_Silent_p.T130T	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	130					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGTCCTCCTCCGTTTCTTCCA	0.483000													19	73					0	0	0.000175454	0	0
CLVS2	134829	broad.mit.edu	37	6	123319073	123319073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:123319073G>A	ENST00000275162.4	+	2	1486	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	51					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCGCACGGATGATGCCTTCAT	0.557000													12	58					0	0	0.00010058	0	0
DNAJC8	22826	broad.mit.edu	37	1	28536526	28536526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:28536526G>A	ENST00000263697.4	-	5	382	c.356C>T	c.(355-357)gCc>gTc	p.A119V	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	119	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TACATCCAGGGCCCTCTTCTT	0.428000													11	34					0	0	0.000219431	0	0
MAGI3	260425	broad.mit.edu	37	1	114165587	114165587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:114165587C>T	ENST00000369615.1	+	9	1393	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	MAGI3_ENST00000369617.4_Missense_Mutation_p.P469L|MAGI3_ENST00000369611.4_Missense_Mutation_p.P444L|MAGI3_ENST00000307546.9_Missense_Mutation_p.P444L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	469	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGATGGTCCCGCAGCTCAG	0.343000													4	29					0	0	0.00024832	0	0
DDB1	1642	broad.mit.edu	37	11	61094298	61094298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:61094298G>A	ENST00000301764.7	-	5	1014	c.617C>T	c.(616-618)cCt>cTt	p.P206L	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	206	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTTTCCAAGGGCCCTTATT	0.517000								Nucleotide excision repair (NER)					22	168					0	0	0.000878237	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786438	17786438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:17786438G>A	ENST00000380607.4	+	4	367	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	SH3GL2_ENST00000537391.1_Missense_Mutation_p.G36R	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	83	BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCAGGAGAAGGGGCCAGGCTA	0.502000													13	67					0	0	0.000308642	0	0
ZNF76	7629	broad.mit.edu	37	6	35258133	35258133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:35258133C>T	ENST00000373953.3	+	6	789	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	ZNF76_ENST00000339411.5_Missense_Mutation_p.L175F|ZNF76_ENST00000440666.2_Missense_Mutation_p.L149F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	175					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTGTGGGCGTCTCTACACCAC	0.532000													24	186					0	0	0.000878237	0	0
OR8D1	283159	broad.mit.edu	37	11	124180450	124180450	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:124180450G>A	ENST00000357821.2	-	1	283	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGAATAGCAGAAATCGACGA	0.463000													11	37					0	0	0.000978159	0	0
H3F3C	440093	broad.mit.edu	37	12	31944912	31944912	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:31944912C>T	ENST00000340398.3	-	1	263	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	63					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AGGGCAGCTTCCGGATGAGCA	0.617000										HNSCC(67;0.2)			5	34					0	0	3.59834e-05	0	0
GPR98	84059	broad.mit.edu	37	5	90072347	90072347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:90072347C>T	ENST00000405460.2	+	61	12577	c.12481C>T	c.(12481-12483)Ctc>Ttc	p.L4161F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4161					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCACATCCTCATTGGGGA	0.403000													8	49					0	0	0.000274275	0	0
C8B	732	broad.mit.edu	37	1	57397493	57397493	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:57397493G>A	ENST00000543257.1	-	12	2021	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	C8B_ENST00000535057.1_Silent_p.S475S|C8B_ENST00000371237.4_Silent_p.S537S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	537	MACPF.				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						TCTTCCGATAGGAGACCTCAC	0.512000													8	29					0	0	0.000673444	0	0
APLF	200558	broad.mit.edu	37	2	68772353	68772353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:68772353C>T	ENST00000303795.4	+	8	1366	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	399					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TTTTAGCCATCCTGGTGATAG	0.388000													13	54					0	0	0.000422831	0	0
SLC36A2	153201	broad.mit.edu	37	5	150726974	150726974	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:150726974G>A	ENST00000335244.4	-	1	177	c.48C>T	c.(46-48)atC>atT	p.I16I	SLC36A2_ENST00000521967.1_Silent_p.I16I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	16					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAATTTGATGGCAACGG	0.493000													27	150					0	0	0.000227799	0	0
CLMP	79827	broad.mit.edu	37	11	122955359	122955359	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:122955359C>T	ENST00000448775.2	-	3	589	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	83	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGCAAAGGCCACTCGGCCCT	0.507000													9	52					0	0	0.000442599	0	0
TPTE	7179	broad.mit.edu	37	21	10906928	10906928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:10906928C>T	ENST00000298232.7	-	23	1946	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D545N|TPTE_ENST00000342420.5_Missense_Mutation_p.D507N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	545	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D527N(2)|p.D545N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTACAACATCACTGGAAGTC	0.383000													5	45					0	0	0.000602214	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744054	135744054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:135744054C>T	ENST00000375845.3	-	7	2418	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M813I|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M683I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CATTCTGTTTCATGGACTGCT	0.393000													17	79					0	0	0.000566183	0	0
MED16	10025	broad.mit.edu	37	19	873506	873506	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:873506C>T	ENST00000312090.6	-	11	1998	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	MED16_ENST00000269814.4_Silent_p.Q616Q|MED16_ENST00000395808.3_Silent_p.Q616Q|MED16_ENST00000325464.1_Silent_p.Q616Q|MED16_ENST00000589119.1_Silent_p.Q616Q			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	616					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCAAGAGCTGCTGCAGCG	0.612000													6	45					0	0	3.59834e-05	0	0
OPLAH	26873	broad.mit.edu	37	8	145106331	145106331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:145106331C>T	ENST00000426825.1	-	28	3844	c.3763G>A	c.(3763-3765)Gac>Aac	p.D1255N	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1255							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCCTCCGGGTCCCCATAGCCA	0.741000													7	17					0	0	0.000274275	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839230	100839230	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100839230G>A	ENST00000223114.4	-	7	1189	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	MOGAT3_ENST00000379423.3_Silent_p.L274L|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	341					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)					GCCAGGCCTAGATGAAGGTGA	0.602000													9	66					0	0	0.000442599	0	0
WDFY3	23001	broad.mit.edu	37	4	85731300	85731300	+	Silent	SNP	T	T	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:85731300T>G	ENST00000322366.6	-	14	2492	c.2085A>C	c.(2083-2085)gcA>gcC	p.A695A	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.A695A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	695						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATAGCGCATTGCTGCAGTCA	0.448000													15	58					0	0	0.000219431	0	0
DRP2	1821	broad.mit.edu	37	X	100511121	100511121	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:100511121A>T	ENST00000395209.3	+	21	2788	c.2261A>T	c.(2260-2262)tAc>tTc	p.Y754F	DRP2_ENST00000402866.1_Missense_Mutation_p.Y754F|DRP2_ENST00000538510.1_Missense_Mutation_p.Y754F|DRP2_ENST00000541709.1_Missense_Mutation_p.Y676F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	754					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGGACCAGTACCTGCTGCGG	0.577000													19	36					0	0	0.000229342	0	0
SI	6476	broad.mit.edu	37	3	164735612	164735612	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:164735612C>T	ENST00000264382.3	-	30	3632	c.3570G>A	c.(3568-3570)ggG>ggA	p.G1190G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1190	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATCCAAGATCCCTCCAACTG	0.333000										HNSCC(35;0.089)			6	25					0	0	0.000157383	0	0
ITGA9	3680	broad.mit.edu	37	3	37785434	37785434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:37785434C>T	ENST00000264741.5	+	22	2598	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	781					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCCAACCTCCTTTGTATAT	0.488000													7	72					0	0	0.000274275	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841819	8841819	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:8841819G>A	ENST00000324060.2	+	1	504	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATGTCTGCTGATGATGGGCT	0.547000													7	51					0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179470419	179470419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179470419C>T	ENST00000589042.1	-	279	53827	c.53603G>A	c.(53602-53604)aGg>aAg	p.R17868K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8995K|TTN_ENST00000359218.5_Missense_Mutation_p.R8928K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8803K|TTN_ENST00000591111.1_Missense_Mutation_p.R16227K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15300K|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16227	Fibronectin type-III 29.						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)			GTATGTGAGCCTCTCTGGAGA	0.393000													6	38					0	0	8.12818e-05	0	0
HCK	3055	broad.mit.edu	37	20	30667604	30667604	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:30667604G>A	ENST00000534862.1	+	7	759	c.396G>A	c.(394-396)aaG>aaA	p.K132K	HCK_ENST00000375862.2_Silent_p.K151K|HCK_ENST00000375852.2_Silent_p.K152K|HCK_ENST00000538448.1_Silent_p.K131K|HCK_ENST00000518730.1_Silent_p.K130K|HCK_ENST00000520553.1_Silent_p.K131K	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	152	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCAGCCGGAAGGACGCAGAGC	0.587000													5	34					0	0	3.59834e-05	0	0
RPRD2	23248	broad.mit.edu	37	1	150444095	150444095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:150444095C>T	ENST00000401000.4	+	10	2658	c.2593C>T	c.(2593-2595)Cca>Tca	p.P865S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P891S|RPRD2_ENST00000539519.1_Missense_Mutation_p.P865S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	891	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCCCTCCATCTGTAAG	0.517000													12	67					0	0	0.000978159	0	0
ZNF582	147948	broad.mit.edu	37	19	56896026	56896026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:56896026G>A	ENST00000301310.4	-	5	918	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	ZNF582_ENST00000586929.1_Missense_Mutation_p.P254S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CATTCATACGGTTTCTCACCA	0.398000													6	36					0	0	3.59834e-05	0	0
POM121L12	285877	broad.mit.edu	37	7	53103832	53103832	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:53103832G>A	ENST00000408890.4	+	1	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731000													5	16					0	0	0.000602214	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817048	22817048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:22817048C>T	ENST00000404138.1	+	3	1118	c.607C>T	c.(607-609)Cca>Tca	p.P203S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P203S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.P203S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	203					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGCAGAAACCCCAGCGGAGAC	0.522000													17	88					0	0	0.000422831	0	0
CHGB	1114	broad.mit.edu	37	20	5897564	5897564	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:5897564G>A	ENST00000378961.4	+	3	393	c.190_splice	c.e3+1	p.T63_splice	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	63						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCCTGAAGACGAGTAAGTGTC	0.552000													4	30					0	0	3.59834e-05	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761116	95761116	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:95761116G>A	ENST00000416240.2	-	15	1723	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	SLC25A13_ENST00000265631.5_Silent_p.S510S|SLC25A13_ENST00000542654.1_Silent_p.S402S	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	510					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CATTTGCAAAGGAAGCCTTCA	0.517000													9	35					0	0	0.000442599	0	0
SHC2	25759	broad.mit.edu	37	19	425215	425215	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:425215G>A	ENST00000264554.6	-	10	1190	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	397	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTGCACGTAGCCGTCCCCCG	0.716000													11	22					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179612027	179612027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179612027C>T	ENST00000360870.5	-	46	15322	c.15100G>A	c.(15100-15102)Gaa>Aaa	p.E5034K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1138							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)			TCAGCAACTTCCCCTAAAGGT	0.433000													11	35					0	0	0.000151284	0	0
DENND2C	163259	broad.mit.edu	37	1	115144803	115144803	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:115144803G>A	ENST00000393274.1	-	12	2305	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.S503S|DENND2C_ENST00000393277.1_Silent_p.S560S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	560	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAGACAAAGGAGAATGTTT	0.388000													6	47					0	0	3.59834e-05	0	0
SLIT1	6585	broad.mit.edu	37	10	98762108	98762108	+	Silent	SNP	G	G	A	rs146064836	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:98762108G>A	ENST00000266058.4	-	36	4418	c.4173C>T	c.(4171-4173)tgC>tgT	p.C1391C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.C1391C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1391	EGF-like 8.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGAGGGGCACGCATTGCCCAT	0.657000													4	10					0	0	0.00024832	0	0
JAZF1	221895	broad.mit.edu	37	7	27880461	27880461	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:27880461C>T	ENST00000283928.5	-	4	576	c.411G>A	c.(409-411)gtG>gtA	p.V137V	JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	137					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CCTCATAGTCCACCTCCTCCT	0.582000			T	SUZ12	endometrial stromal tumours								35	256					0	0	0.000228196	0	0
ASB15	142685	broad.mit.edu	37	7	123277012	123277012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:123277012G>A	ENST00000451558.1	+	14	2265	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	ASB15_ENST00000451215.1_Missense_Mutation_p.G582R|ASB15_ENST00000434204.1_Missense_Mutation_p.G582R|ASB15_ENST00000275699.3_Missense_Mutation_p.G582R|ASB15_ENST00000540573.1_Missense_Mutation_p.G582R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	582					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGATCTCTATGGACAAGAGCT	0.333000													10	53					0	0	0.000673444	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063004	55063004	+	RNA	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:55063004C>T	ENST00000526016.1	-	0	633					NR_038174.2																						CTTAAAAGCTCCCTGGAATGT	0.428000													4	18					0	0	0.000602214	0	0
CCDC57	284001	broad.mit.edu	37	17	80059628	80059628	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:80059628C>A	ENST00000392347.1	-	17	2717	c.2681G>T	c.(2680-2682)cGg>cTg	p.R894L	CCDC57_ENST00000389641.4_Missense_Mutation_p.R894L	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	894										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGGATGAGACCGGGAGGCTCC	0.612000													5	78					0.000602214	0.00858699	0.000602214	1	0
OR8D2	283160	broad.mit.edu	37	11	124189545	124189545	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:124189545G>A	ENST00000357438.2	-	1	639	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAGTCAATAAGGGGAGAATAT	0.448000													5	57					0	0	0.000602214	0	0
ZNF506	440515	broad.mit.edu	37	19	19906068	19906068	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:19906068A>G	ENST00000443905.2	-	4	775	c.628T>C	c.(628-630)Tat>Cat	p.Y210H	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y178H|ZNF506_ENST00000540806.2_Missense_Mutation_p.Y210H|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						GACTGCTTATAGGCTTTACCA	0.373000													11	22					0	0	0.000978159	0	0
TXNDC8	255220	broad.mit.edu	37	9	113096559	113096559	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:113096559G>A	ENST00000374507.4	-	2	116	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TXNDC8_ENST00000374511.3_Silent_p.L22L|TXNDC8_ENST00000374510.4_Silent_p.L22L|TXNDC8_ENST00000423740.2_Silent_p.L22L			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	22	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACCACTGCGAGTTTGTGTC	0.368000													6	33					0	0	0.000157383	0	0
ACTC1	70	broad.mit.edu	37	15	35085458	35085458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:35085458C>T	ENST00000290378.4	-	3	1097	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	148					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGGTACGGCCAGAAGCATAC	0.522000													10	51					0	0	0.000673444	0	0
CCDC146	57639	broad.mit.edu	37	7	76889513	76889513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:76889513G>A	ENST00000285871.4	+	8	1073	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E62K	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	316										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CAAGCTATTGGAATTAGCCAG	0.313000													10	46					0	0	0.000978159	0	0
PAX1	5075	broad.mit.edu	37	20	21687029	21687029	+	Silent	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:21687029G>T	ENST00000444366.2	+	1	169	c.168G>T	c.(166-168)ccG>ccT	p.P56P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	81					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTAACCCGCCGGGTGTTTTCT	0.662000													4	26					0.000602214	0.00858699	0.000602214	1	0
SEMA5A	9037	broad.mit.edu	37	5	9154652	9154652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:9154652C>T	ENST00000382496.5	-	12	2094	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	477	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACGTGCTCCCGCAGGCCC	0.612000													6	48					0	0	8.12818e-05	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	by1000genomes	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57								p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000													6	215					0	0	0.000151284	0	0
CHD3	1107	broad.mit.edu	37	17	7811803	7811803	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:7811803T>G	ENST00000380358.4	+	35	5414	c.5413T>G	c.(5413-5415)Tat>Gat	p.Y1805D	CHD3_ENST00000358181.4_Missense_Mutation_p.Y1712D|CHD3_ENST00000330494.7_Missense_Mutation_p.Y1746D	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1746	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAGACATGACTATTGGCTTCT	0.458000													7	27					0	0	0.000157383	0	0
CNKSR2	22866	broad.mit.edu	37	X	21624974	21624974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:21624974G>A	ENST00000425654.2	+	18	2512	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.D659N|CNKSR2_ENST00000379510.3_Missense_Mutation_p.D708N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.D708N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	708					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACCCCCATATGATACATACCC	0.403000													18	25					0	0	0.000958276	0	0
CCDC144A	9720	broad.mit.edu	37	17	16635973	16635973	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:16635973A>G	ENST00000443444.2	+	11	2551	c.2411A>G	c.(2410-2412)aAt>aGt	p.N804S	CCDC144A_ENST00000456009.1_Missense_Mutation_p.N524S|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N804S|CCDC144A_ENST00000360524.8_Missense_Mutation_p.N804S|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N804S			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	804																	AAGAAAATGAATTCTGAGGTA	0.313000													9	16					0	0	0.000274275	0	0
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I									p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383000													4	45					0	0	0.00024832	0	0
SLIT2	9353	broad.mit.edu	37	4	20598237	20598237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:20598237C>T	ENST00000504154.1	+	32	3772	c.3520C>T	c.(3520-3522)Cct>Tct	p.P1174S	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1170S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1166S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1187S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1174	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTCAGATTCCTTCAGCCAA	0.388000													5	42					0	0	3.59834e-05	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:248366886G>A	ENST00000456743.1	+	1	555	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000													25	108					0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179427423	179427423	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179427423G>A	ENST00000589042.1	-	326	83660	c.83436C>T	c.(83434-83436)gcC>gcT	p.A27812A	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A18939A|TTN_ENST00000359218.5_Silent_p.A18872A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A18747A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.A26171A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.A25244A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26171	Ig-like 130.						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)			TGGTAGCATAGGCTTTTCTTG	0.373000													9	66					0	0	0.000673444	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457481	110457481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:110457481G>A	ENST00000378402.5	+	38	5487	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1795	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAGGTTAATGAAAACAACAT	0.423000										HNSCC(38;0.096)			13	81					0	0	0.000308642	0	0
COL14A1	7373	broad.mit.edu	37	8	121381647	121381647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:121381647G>A	ENST00000297848.3	+	47	5504	c.5234G>A	c.(5233-5235)gGg>gAg	p.G1745E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1650E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1745E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1745	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTCATCTGGGGGTTCCTGGA	0.592000													15	43					0	0	0.000566183	0	0
LCLAT1	253558	broad.mit.edu	37	2	30748459	30748459	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:30748459G>T	ENST00000309052.4	+	3	326	c.117G>T	c.(115-117)atG>atT	p.M39I	LCLAT1_ENST00000379509.3_Start_Codon_SNP_p.M1I|LCLAT1_ENST00000540623.1_Start_Codon_SNP_p.M1I|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000359433.1_Missense_Mutation_p.M39I|LCLAT1_ENST00000319406.4_Missense_Mutation_p.M39I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	39					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCAGAATCATGGTGTCATGGA	0.328000													8	93					5.18039e-06	7.5857e-05	0.000157383	1	0
RGS21	431704	broad.mit.edu	37	1	192335244	192335244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:192335244C>T	ENST00000417209.2	+	5	623	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333000													11	33					0	0	0.000978159	0	0
CASC3	22794	broad.mit.edu	37	17	38318286	38318286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:38318286G>A	ENST00000264645.7	+	5	714	c.488G>A	c.(487-489)gGt>gAt	p.G163D		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	163	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AACAAAGTGGGTAAAAAGGGC	0.463000													10	31					0	0	0.000442599	0	0
LRP2	4036	broad.mit.edu	37	2	170031841	170031841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:170031841C>T	ENST00000263816.3	-	55	10915	c.10630G>A	c.(10630-10632)Gaa>Aaa	p.E3544K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3544	LDL-receptor class A 26.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.E3544Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGCCAGTTCATCAGAGCCA	0.527000													13	46					0	0	0.000422831	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899360	56899360	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:56899360C>T	ENST00000438926.2	+	1	242	c.213C>T	c.(211-213)gcC>gcT	p.A71A	SLC12A3_ENST00000566786.1_Silent_p.A71A|SLC12A3_ENST00000563236.1_Silent_p.A71A|SLC12A3_ENST00000262502.5_Silent_p.A71A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	71					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGCACTATGCCAACAGCACCC	0.597000													10	83					0	0	0.000442599	0	0
EPHA7	2045	broad.mit.edu	37	6	93967240	93967240	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:93967240C>T	ENST00000369303.4	-	12	2296	c.2110_splice	c.e12-1	p.G704_splice		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	704	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTGGTTTCCCTAAAATTA	0.368000													8	53					0	0	0.000157383	0	0
MPP3	4356	broad.mit.edu	37	17	41891690	41891690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:41891690C>T	ENST00000398393.1	-	13	1384	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Missense_Mutation_p.R350K			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	350					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCACCCAGTCTCTCCCTACA	0.617000													12	54					0	0	0.000151284	0	0
LOC146880	146880	broad.mit.edu	37	17	62758556	62758556	+	RNA	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:62758556G>T	ENST00000400873.3	-	0	1389					NR_026899.1																						GAGTAGATATGGTAAGAACTT	0.433000													7	50					0.000219431	0.00319166	0.000219431	1	0
OSBP	5007	broad.mit.edu	37	11	59368790	59368790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:59368790C>T	ENST00000263847.1	-	5	1569	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	364					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTGATGATCTCAGGTGCATCA	0.398000													7	39					0	0	0.000442599	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522373	86522373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:86522373C>T	ENST00000450689.2	-	20	2914	c.2729G>A	c.(2728-2730)gGa>gAa	p.G910E	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G839E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G670E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G743E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	910						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CAAAGAAATTCCTTTAATGCA	0.398000													17	150					0	0	0.000375601	0	0
CADM2	253559	broad.mit.edu	37	3	85984998	85984998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:85984998G>A	ENST00000383699.3	+	7	1409	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CADM2_ENST00000407528.2_Missense_Mutation_p.G252E|CADM2_ENST00000405615.2_Missense_Mutation_p.G254E	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	252	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)		GAATCCAAAGGAAAACCACTG	0.318000													19	125					0	0	0.000375601	0	0
DDX60	55601	broad.mit.edu	37	4	169204704	169204704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:169204704G>A	ENST00000393743.3	-	13	1906	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	539							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAAAACCGTTGGAAAACATGA	0.328000													15	48					0	0	0.000958276	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587978	68587978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:68587978C>T	ENST00000478136.1	+	4	821	c.331C>T	c.(331-333)Cct>Tct	p.P111S	FAM19A1_ENST00000496687.1_Missense_Mutation_p.P111S	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	111						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAAGACACTCCCTGACAATTC	0.428000													9	63					0	0	0.000673444	0	0
C1orf116	79098	broad.mit.edu	37	1	207196511	207196511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:207196511G>A	ENST00000359470.5	-	4	847	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	200						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTGGCGGAGGGATGAGC	0.657000													14	95					0	0	0.000151284	0	0
TRPC3	7222	broad.mit.edu	37	4	122846297	122846297	+	Missense_Mutation	SNP	C	C	T	rs148910203		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:122846297C>T	ENST00000264811.5	-	2	1251	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	TRPC3_ENST00000513531.1_Missense_Mutation_p.R278Q|TRPC3_ENST00000379645.3_Missense_Mutation_p.R351Q	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	266					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						TTCTGAGTCTCGGCAGAGATC	0.438000													15	73					0	0	0.000422831	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761117	95761117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:95761117G>A	ENST00000416240.2	-	15	1722	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	SLC25A13_ENST00000265631.5_Missense_Mutation_p.S510F|SLC25A13_ENST00000542654.1_Missense_Mutation_p.S402F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	510					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATTTGCAAAGGAAGCCTTCAC	0.512000													8	35					0	0	0.000274275	0	0
PARP12	64761	broad.mit.edu	37	7	139757831	139757831	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:139757831C>T	ENST00000263549.3	-	2	1203	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	110						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCCTACAGTTCTTCCTGCAAA	0.458000													8	76					0	0	0.000442599	0	0
PDE8B	8622	broad.mit.edu	37	5	76707543	76707543	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:76707543A>G	ENST00000264917.5	+	15	1618	c.1573A>G	c.(1573-1575)Aag>Gag	p.K525E	PDE8B_ENST00000505283.1_5'UTR|PDE8B_ENST00000342343.4_Missense_Mutation_p.K505E|PDE8B_ENST00000340978.3_Missense_Mutation_p.K478E|PDE8B_ENST00000346042.3_Missense_Mutation_p.K428E|PDE8B_ENST00000333194.4_Missense_Mutation_p.K470E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	525					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGTGTTTACTAAGAGTAAGTT	0.413000													69	320					0	0	0.000781405	0	0
CCDC42	146849	broad.mit.edu	37	17	8638800	8638800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:8638800C>T	ENST00000293845.3	-	5	848	c.622G>A	c.(622-624)Gag>Aag	p.E208K	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	208				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTTTTCCTCCATGTAGCGC	0.592000													7	34					0	0	0.000157383	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457018	110457018	+	Silent	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:110457018G>T	ENST00000378402.5	+	38	5024	c.4920G>T	c.(4918-4920)ctG>ctT	p.L1640L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1640	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTACAACCTGGGCACTGCTA	0.403000										HNSCC(38;0.096)			51	213					3.31993e-32	4.91101e-31	0.000781405	1	0
ACR	49	broad.mit.edu	37	22	51182622	51182622	+	Silent	SNP	C	C	T	rs145267492	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:51182622C>T	ENST00000216139.5	+	4	739	c.699C>T	c.(697-699)atC>atT	p.I233I	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	233	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCAAGATCGACACCTGCC	0.587000													5	39					0	0	3.59834e-05	0	0
TET3	200424	broad.mit.edu	37	2	74274273	74274273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:74274273C>T	ENST00000409262.3	+	1	824	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	275							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGTGGTTCCTCCTGAAGAG	0.592000													9	53					0	0	0.000673444	0	0
GFRAL	389400	broad.mit.edu	37	6	55264062	55264062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:55264062C>T	ENST00000340465.2	+	7	1123	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	346						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATTTCATTCCCCCTTCAAT	0.284000													7	28					0	0	0.000274275	0	0
CGNL1	84952	broad.mit.edu	37	15	57745952	57745952	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:57745952A>G	ENST00000281282.5	+	7	2204	c.2126A>G	c.(2125-2127)gAa>gGa	p.E709G		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	709						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGCTCTCAGAAATGCACGAT	0.552000													8	42					0	0	0.000978159	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:25708118C>T	ENST00000520164.1	-	15	2225	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	EBF2_ENST00000408929.3_Missense_Mutation_p.G415E|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000													17	79					0	0	0.000175454	0	0
NUP205	23165	broad.mit.edu	37	7	135304540	135304540	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:135304540G>T	ENST00000285968.6	+	30	4260	c.4234G>T	c.(4234-4236)Ggt>Tgt	p.G1412C		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1412					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCCCTAGGTGGTGGATTCCA	0.353000													8	279					0.000442599	0.00637372	0.000442599	1	0
ACSF2	80221	broad.mit.edu	37	17	48549854	48549854	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:48549854C>T	ENST00000427954.2	+	13	1507	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	ACSF2_ENST00000504392.1_Silent_p.I420I|ACSF2_ENST00000541920.1_Silent_p.I303I|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Silent_p.I463I|ACSF2_ENST00000502667.1_Silent_p.I450I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	463					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCTGTGCATCCGAGGGTACT	0.602000													11	21					0	0	0.000978159	0	0
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:54304614C>T	ENST00000324134.6	-	7	2791	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.E875K|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.E875K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E876K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E876K|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E875*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCCAGCTCGTCACAGGCA	0.527000													7	42					0	0	8.12818e-05	0	0
COL5A3	50509	broad.mit.edu	37	19	10097052	10097052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:10097052C>T	ENST00000264828.3	-	30	2376	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	764	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCCTTCGGCCCCTCAGGACC	0.607000													4	15					0	0	0.00024832	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800280	34800280	+	Silent	SNP	C	C	T	rs138806418		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:34800280C>T	ENST00000338074.2	+	16	2327	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S	EPB41L1_ENST00000202028.5_Silent_p.S648S|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Silent_p.S542S|EPB41L1_ENST00000373950.2_Silent_p.S613S|EPB41L1_ENST00000441639.1_Silent_p.S648S|EPB41L1_ENST00000373941.1_Silent_p.S722S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	722					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCAGAGTCTCCGCTATGGATA	0.522000													11	37					0	0	0.000978159	0	0
ADORA3	140	broad.mit.edu	37	1	112043095	112043095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:112043095G>A	ENST00000241356.4	-	2	839	c.434C>T	c.(433-435)cCc>cTc	p.P145L	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	145					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCCAAACATGGGGGTCAATCC	0.483000													18	88					0	0	0.000958276	0	0
FER1L6	654463	broad.mit.edu	37	8	125025757	125025757	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:125025757C>T	ENST00000522917.1	+	15	2114	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	FER1L6_ENST00000399018.1_Silent_p.F636F|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	636						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)			TCAGTGACTTCATCAGTCGGA	0.453000													11	52					0	0	0.000978159	0	0
C14orf159	80017	broad.mit.edu	37	14	91642291	91642291	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:91642291C>T	ENST00000518868.1	+	10	1311	c.621C>T	c.(619-621)atC>atT	p.I207I	C14orf159_ENST00000520328.1_Silent_p.I190I|C14orf159_ENST00000523816.1_Silent_p.I202I|C14orf159_ENST00000525393.2_Silent_p.I78I|C14orf159_ENST00000256324.10_Silent_p.I207I|C14orf159_ENST00000521077.2_Silent_p.I207I|C14orf159_ENST00000523771.1_Silent_p.I202I|C14orf159_ENST00000428926.2_Silent_p.I202I|C14orf159_ENST00000412671.2_Silent_p.I207I|C14orf159_ENST00000522322.1_Silent_p.I202I			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	202						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGTTGGGAATCAAAGAGCTTT	0.488000													11	66					0	0	0.000219431	0	0
OR13C8	138802	broad.mit.edu	37	9	107331655	107331655	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107331655C>T	ENST00000335040.1	+	1	207	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTCCTTCCTCGACGTTTGCT	0.428000													14	169					0	0	0.000308642	0	0
SACS	26278	broad.mit.edu	37	13	23911699	23911699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr13:23911699G>A	ENST00000382298.3	-	10	6904	c.6316C>T	c.(6316-6318)Cct>Tct	p.P2106S	SACS_ENST00000402364.1_Missense_Mutation_p.P1356S|SACS_ENST00000382292.3_Missense_Mutation_p.P2106S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2106					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAACCAAAGGATGCCCCTCC	0.398000													5	27					0	0	0.000602214	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039562	193039562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:193039562G>A	ENST00000342358.4	-	16	1940	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	608					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)		AGCGATCACGGACATCCTCTG	0.507000													9	49					0	0	0.000274275	0	0
ZNF266	10781	broad.mit.edu	37	19	9524605	9524605	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:9524605G>A	ENST00000592904.1	-	5	3072	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ZNF266_ENST00000590306.1_Silent_p.S332S|ZNF266_ENST00000588933.1_Silent_p.S332S|ZNF266_ENST00000361151.1_Silent_p.S332S|ZNF266_ENST00000361451.2_Silent_p.S332S|ZNF266_ENST00000588221.1_Silent_p.S332S|ZNF266_ENST00000592292.1_Silent_p.S332S			Q14584	ZN266_HUMAN	zinc finger protein 266	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AATTTCTAAAGGATTTTCCAC	0.383000													15	63					0	0	0.000422831	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840930	36840930	+	RNA	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:36840930G>T	ENST00000557188.1	+	0	561																											ACATGTTACTGGGCGGAGTTC	0.458000													5	44					0.000602214	0.00858699	0.000602214	1	0
MGAT5B	146664	broad.mit.edu	37	17	74868989	74868989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:74868989G>A	ENST00000569840.2	+	2	699	c.125G>A	c.(124-126)gGa>gAa	p.G42E	MGAT5B_ENST00000565675.1_Missense_Mutation_p.G42E|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G42E|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G53E	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	42						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCTCTGGGAGGCCAGTTC	0.622000													10	51					0	0	0.000978159	0	0
DUS3L	56931	broad.mit.edu	37	19	5791067	5791067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:5791067G>A	ENST00000309061.7	-	1	182	c.86C>T	c.(85-87)cCc>cTc	p.P29L	DUS3L_ENST00000320699.8_Missense_Mutation_p.P29L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	29					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						ACGCTTAATGGGCGCCACTCC	0.652000													4	8					0	0	0.000602214	0	0
MIA3	375056	broad.mit.edu	37	1	222803033	222803033	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:222803033C>A	ENST00000344922.5	+	4	2496	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P824Q|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	824					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCACAGAGACCATTTGAACGA	0.423000													11	400					0.000673444	0.00954009	0.000673444	1	0
ZNF521	25925	broad.mit.edu	37	18	22805795	22805795	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr18:22805795C>A	ENST00000361524.3	-	4	2235	c.2087G>T	c.(2086-2088)tGt>tTt	p.C696F	ZNF521_ENST00000584787.1_Missense_Mutation_p.C476F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C696F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	696					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACAACTCTCACAGATGTAATA	0.448000			T	PAX5	ALL								20	72					1.87028e-06	2.74792e-05	0.000229342	1	0
CACHD1	57685	broad.mit.edu	37	1	65131799	65131799	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:65131799T>C	ENST00000371073.2	+	16	2336	c.2336T>C	c.(2335-2337)gTt>gCt	p.V779A	CACHD1_ENST00000290039.5_Missense_Mutation_p.V728A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	779	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TACTTAGATGTTGGAGGAGCT	0.328000													9	61					0	0	0.000442599	0	0
OASL	8638	broad.mit.edu	37	12	121471302	121471302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:121471302G>A	ENST00000257570.5	-	2	713	c.443C>T	c.(442-444)cCc>cTc	p.P148L	OASL_ENST00000339275.5_Missense_Mutation_p.P148L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	148					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCGTGATGGGCTCCGCAGT	0.632000													26	127					0	0	0.00106085	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34028868	34028868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:34028868G>A	ENST00000382065.3	-	4	1397	c.691C>T	c.(691-693)Cca>Tca	p.P231S	C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000231338.7_Missense_Mutation_p.P158S	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	158	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTGATACTGGGGCCCCAAAT	0.423000													7	42					0	0	0.000442599	0	0
KCNB2	9312	broad.mit.edu	37	8	73849879	73849879	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:73849879G>A	ENST00000523207.1	+	3	2877	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	763					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q763H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCCTCCCAGGGAGACAGAC	0.582000													14	70					0	0	0.000219431	0	0
RELB	5971	broad.mit.edu	37	19	45540674	45540674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:45540674C>T	ENST00000221452.8	+	12	1516	c.1366C>T	c.(1366-1368)Ccg>Tcg	p.P456S	RELB_ENST00000505236.1_Missense_Mutation_p.P453S|RELB_ENST00000540120.1_Missense_Mutation_p.P456S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	456						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCCGTTCCTCCCGCCGTCAGC	0.592000													26	183					0	0	0.00106085	0	0
SARS	6301	broad.mit.edu	37	1	109777939	109777939	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:109777939C>T	ENST00000369923.4	+	7	866	c.855C>T	c.(853-855)ctC>ctT	p.L285L	SARS_ENST00000234677.2_Silent_p.L285L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	285					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATGAGTGGCTCCGGCCGGAGG	0.592000													64	412					0	0	0.000781405	0	0
FOSL2	2355	broad.mit.edu	37	2	28631669	28631669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:28631669G>A	ENST00000264716.4	+	3	1261	c.398G>A	c.(397-399)aGg>aAg	p.R133K	FOSL2_ENST00000545753.1_Missense_Mutation_p.R94K|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.R108K	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	133					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)					CGGCGGGAGAGGAACAAGCTG	0.582000													4	21					0	0	3.59834e-05	0	0
SAA1	6288	broad.mit.edu	37	11	18290771	18290771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:18290771G>A	ENST00000405158.2	+	3	305	c.121G>A	c.(121-123)Gac>Aac	p.D41N	SAA1_ENST00000356524.4_Missense_Mutation_p.D41N|SAA1_ENST00000532858.1_Missense_Mutation_p.D41N	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	41					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCCTACTCTGACATGAGAGA	0.527000													6	43					0	0	0.000157383	0	0
FLRT2	23768	broad.mit.edu	37	14	86088234	86088234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:86088234C>T	ENST00000330753.4	+	2	1143	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R126W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	126					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GACCATTTCACGGGCTGCTCT	0.517000													8	67					0	0	0.000442599	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914849	156914849	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:156914849G>A	ENST00000368194.3	-	30	3992	c.2953C>T	c.(2953-2955)Ctg>Ttg	p.L985L	ARHGEF11_ENST00000315174.8_Silent_p.L361L|ARHGEF11_ENST00000361409.2_Silent_p.L945L|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	945	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTCCAGGGCGGTGGCA	0.567000													8	131					0	0	0.000442599	0	0
C7orf33	202865	broad.mit.edu	37	7	148288069	148288069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:148288069C>T	ENST00000307003.2	+	1	413	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	18										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CTGGAGACTTCCAGGCCCCCA	0.572000													12	45					0	0	0.000151284	0	0
MT4	84560	broad.mit.edu	37	16	56602771	56602771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:56602771C>T	ENST00000219162.3	+	3	196	c.116C>T	c.(115-117)cCc>cTc	p.P39L		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	39						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CCCTGCTGCCCCCCGGGCTGT	0.607000													12	109					0	0	0.000219431	0	0
BRINP1	1620	broad.mit.edu	37	9	121929846	121929846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:121929846G>A	ENST00000265922.3	-	8	2263	c.1802C>T	c.(1801-1803)aCt>aTt	p.T601I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		601					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGCAAAAGAGTCCAGTTGTA	0.547000													22	87					0	0	0.00047179	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338884	151338884	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:151338884T>C	ENST00000426705.2	-	7	980	c.836A>G	c.(835-837)gAg>gGg	p.E279G	SELENBP1_ENST00000435071.1_Missense_Mutation_p.E173G|SELENBP1_ENST00000447402.3_Missense_Mutation_p.E175G|SELENBP1_ENST00000368868.5_Missense_Mutation_p.E237G	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	237					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCACAATCTCATGGCGCTG	0.577000													15	94					0	0	0.000422831	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(1)		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						TAATAAGAACGATTTTTCCCC	0.408000													29	121					0	0	0.000814825	0	0
KANK4	163782	broad.mit.edu	37	1	62740493	62740493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:62740493C>T	ENST00000371153.4	-	3	661	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	95										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCCTTGGCACCACGGGAGAC	0.607000													25	62					0	0	0.000375601	0	0
KDM7A	80853	broad.mit.edu	37	7	139796708	139796708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:139796708G>A	ENST00000397560.2	-	16	2253	c.2156C>T	c.(2155-2157)cCa>cTa	p.P719L	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P719L	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		719					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCTTTTAATTGGAATTTCACT	0.303000													9	47					0	0	0.00010058	0	0
FAM120A	23196	broad.mit.edu	37	9	96278434	96278434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:96278434C>T	ENST00000277165.6	+	7	1495	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	FAM120A_ENST00000333936.5_Missense_Mutation_p.S434F|FAM120A_ENST00000340893.4_Missense_Mutation_p.S434F|FAM120A_ENST00000375389.3_Missense_Mutation_p.S434F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	434						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TATGAGCGGTCCTCGCCCATC	0.597000													6	37					0	0	0.000157383	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073678	8073678	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:8073678C>T	ENST00000377482.5	-	4	1204	c.981G>A	c.(979-981)ccG>ccA	p.P327P	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	327					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCGAGTTACTCGGTGACAAAG	0.512000													22	126					0	0	0.000586117	0	0
ENAM	10117	broad.mit.edu	37	4	71507955	71507955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:71507955G>A	ENST00000396073.3	+	9	1093	c.812G>A	c.(811-813)gGa>gAa	p.G271E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	271					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCCCACAGGAAACAGTACC	0.542000													6	39					0	0	3.59834e-05	0	0
MAP1B	4131	broad.mit.edu	37	5	71494538	71494538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:71494538C>T	ENST00000296755.7	+	5	5654	c.5356C>T	c.(5356-5358)Cca>Tca	p.P1786S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1786						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGATATCTCTCCACTCACCCC	0.448000													9	50					0	0	0.000274275	0	0
OR13C8	138802	broad.mit.edu	37	9	107332092	107332092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107332092C>T	ENST00000335040.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTAGTAATTTCCATCTCTTAC	0.418000													26	78					0	0	0.00106085	0	0
ZNF721	170960	broad.mit.edu	37	4	436857	436857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:436857G>A	ENST00000338977.5	-	2	1411	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.H467Y|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTTCCAGTATGAATTTTCTCA	0.358000													6	46					0	0	8.12818e-05	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223960	142223960	+	RNA	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142223960C>T	ENST00000390367.3	-	0	223																											CACTCTCATCCTGAAATTGAA	0.507000													7	35					0	0	8.12818e-05	0	0
PRUNE2	158471	broad.mit.edu	37	9	79244197	79244197	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:79244197G>A	ENST00000428286.1	-	16	9186	c.7986C>T	c.(7984-7986)ttC>ttT	p.F2662F	PRUNE2_ENST00000443509.2_Silent_p.F269F|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000376718.3_Silent_p.F3020F|PRUNE2_ENST00000223609.6_Silent_p.F285F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3020					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTACTGCTGAATTTTGAAC	0.328000													5	19					0	0	3.59834e-05	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:140222821G>A	ENST00000531613.1	+	1	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA8_ENST00000378123.3_Missense_Mutation_p.E639K|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647000													24	77					0	0	0.000720815	0	0
TLL1	7092	broad.mit.edu	37	4	166916254	166916254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:166916254G>A	ENST00000061240.2	+	5	1203	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TLL1_ENST00000513213.1_Missense_Mutation_p.E186K|TLL1_ENST00000507499.1_Missense_Mutation_p.E186K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	186	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGGCACTGGGAAAAGCACAC	0.448000													33	145					0	0	0.000409698	0	0
CAD	790	broad.mit.edu	37	2	27456998	27456998	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:27456998C>T	ENST00000264705.4	+	22	3684	c.3522C>T	c.(3520-3522)atC>atT	p.I1174I	CAD_ENST00000403525.1_Silent_p.I1111I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1174	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'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)	CACAAGATATCACTGCCAAAA	0.557000													7	49					0	0	8.12818e-05	0	0
AKT3	10000	broad.mit.edu	37	1	243828127	243828127	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:243828127G>A	ENST00000366539.1	-	4	431	c.231C>T	c.(229-231)ctC>ctT	p.L77L	AKT3_ENST00000366540.1_Silent_p.L77L|AKT3_ENST00000336199.5_Silent_p.L77L|AKT3_ENST00000263826.5_Silent_p.L77L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	77	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TAGTCCACTGGAGACATCTGA	0.308000													7	73					0	0	0.000978159	0	0
OSMR	9180	broad.mit.edu	37	5	38886238	38886238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:38886238G>A	ENST00000274276.3	+	7	1339	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	OSMR_ENST00000502536.1_Missense_Mutation_p.E313K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	313					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACTCATAGCTGAAAATTACTT	0.393000													13	70					0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3229204	3229204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:3229204G>A	ENST00000217939.6	-	7	7194	c.7040C>T	c.(7039-7041)aCc>aTc	p.T2347I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2347	Ig-like C2-type 8.					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)				GTTCCGGATGGTGGCGGGCGC	0.567000													21	32					0	0	0.00047179	0	0
CPQ	10404	broad.mit.edu	37	8	97892129	97892129	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:97892129G>T	ENST00000220763.5	+	4	955	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	249					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGCTTCTCATGGGATCAAAAT	0.453000													8	199					0.000673444	0.00954009	0.000673444	1	0
MYH7	4625	broad.mit.edu	37	14	23886453	23886453	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:23886453G>A	ENST00000355349.3	-	32	4590	c.4428C>T	c.(4426-4428)tcC>tcT	p.S1476S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1476					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)		CTGTGCTGAGGGAGCGAGCCT	0.577000													13	52					0	0	0.000308642	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144016	91144016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:91144016G>A	ENST00000371809.3	+	2	1026	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	316							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GCAAGATAGGGAAACTGTGGA	0.438000													8	54					0	0	0.000157383	0	0
PIK3R1	5295	broad.mit.edu	37	5	67575450	67575450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:67575450G>A	ENST00000521381.1	+	5	1139	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PIK3R1_ENST00000274335.5_Missense_Mutation_p.E175K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E175K|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E175K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	175	Rho-GAP.				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)	CGTGGACTTGGAAATGATCGA	0.383000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			10	61					0	0	0.000978159	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037233	44037233	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:44037233C>T	ENST00000372712.2	+	2	707	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372717.1_Silent_p.L42L|DBNDD2_ENST00000372710.3_Silent_p.L144L|DBNDD2_ENST00000372723.3_Silent_p.L42L|DBNDD2_ENST00000360981.4_Silent_p.L42L|DBNDD2_ENST00000372720.3_Silent_p.L140L|DBNDD2_ENST00000372722.3_Silent_p.L42L|DBNDD2_ENST00000357275.2_Silent_p.L42L			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	140					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ATCTGCATCTCGAGTCGCAGA	0.557000													16	49					0	0	0.000958276	0	0
OR4D1	26689	broad.mit.edu	37	17	56233041	56233041	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:56233041A>C	ENST00000268912.5	+	1	548	c.527A>C	c.(526-528)aAc>aCc	p.N176T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATCCTAGATAACTTCTACTGT	0.532000													14	48					0	0	0.000422831	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709668	128709668	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:128709668C>T	ENST00000392665.2	-	2	615	c.471G>A	c.(469-471)ggG>ggA	p.G157G	KCNJ1_ENST00000440599.2_Silent_p.G157G|KCNJ1_ENST00000324036.3_Silent_p.G157G|KCNJ1_ENST00000392664.2_Silent_p.G176G|KCNJ1_ENST00000392666.1_Silent_p.G157G	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	176					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTAAGATGGCCCCACACATGA	0.463000													7	71					0	0	0.000442599	0	0
KIF25	3834	broad.mit.edu	37	6	168443323	168443323	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:168443323G>A	ENST00000443060.2	+	9	1303	c.912G>A	c.(910-912)ggG>ggA	p.G304G	KIF25_ENST00000354419.2_Silent_p.G304G|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	304					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCGTCCTGGGGGCTTTGTTGG	0.657000													11	86					0	0	0.000978159	0	0
PTPRH	5794	broad.mit.edu	37	19	55718140	55718140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:55718140C>T	ENST00000376350.3	-	3	291	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G90E	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	90	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGACCCGGGTCCAAGGCCATC	0.542000													9	56					0	0	0.000274275	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173898662	173898662	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:173898662G>A	ENST00000264111.6	+	27	2854	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	RAPGEF4_ENST00000397087.3_Silent_p.K746K|RAPGEF4_ENST00000540783.1_Silent_p.K737K|RAPGEF4_ENST00000539331.1_Silent_p.K737K|RAPGEF4_ENST00000538974.1_Silent_p.K719K|RAPGEF4_ENST00000397081.3_Silent_p.K890K|RAPGEF4_ENST00000535187.1_Silent_p.K670K|RAPGEF4_ENST00000409036.1_Intron			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	890	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCAAGTTCAAGAAGTTCTATG	0.358000													11	53					0	0	0.000673444	0	0
SNTG1	54212	broad.mit.edu	37	8	51442742	51442742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:51442742C>T	ENST00000522124.1	+	10	1133	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SNTG1_ENST00000276467.5_Missense_Mutation_p.P158S|SNTG1_ENST00000517473.1_Missense_Mutation_p.P158S|SNTG1_ENST00000518864.1_Missense_Mutation_p.P158S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	158					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCAGGTGCTCCAAGTGACCA	0.453000													13	51					0	0	0.000308642	0	0
EPPK1	83481	broad.mit.edu	37	8	144946534	144946534	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:144946534G>A	ENST00000525985.1	-	2	959	c.888C>T	c.(886-888)ggC>ggT	p.G296G				P58107	EPIPL_HUMAN	epiplakin 1	296						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCTTGTGGCCTTCGGGCA	0.687000													13	62					0	0	0.000422831	0	0
BAGE2	85319	broad.mit.edu	37	21	11047521	11047521	+	RNA	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:11047521C>T	ENST00000470054.1	-	0	733									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCATAATTCGTTGAAGACA	0.348000													12	268					0	0	0.00010058	0	0
OR13F1	138805	broad.mit.edu	37	9	107267206	107267206	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107267206C>T	ENST00000334726.2	+	1	752	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCATTTATCCTCGCCAGTA	0.473000													6	110					0	0	3.59834e-05	0	0
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	rs141516067		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:64749369G>A	ENST00000557772.1	-	1	334	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_ENST00000267525.6_Missense_Mutation_p.S112L|ESR2_ENST00000353772.3_Missense_Mutation_p.S112L|ESR2_ENST00000341099.4_Missense_Mutation_p.S112L|ESR2_ENST00000555278.1_Missense_Mutation_p.S112L|ESR2_ENST00000542956.1_Missense_Mutation_p.S112L|ESR2_ENST00000357782.2_Missense_Mutation_p.S112L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.S112L|ESR2_ENST00000358599.5_Missense_Mutation_p.S112L|ESR2_ENST00000553796.1_Missense_Mutation_p.S112L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448000													12	41					0	0	0.00010058	0	0
UBE2K	3093	broad.mit.edu	37	4	39757304	39757304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:39757304C>T	ENST00000261427.5	+	4	528	c.244C>T	c.(244-246)Cct>Tct	p.P82S	UBE2K_ENST00000503368.1_Missense_Mutation_p.P31S|UBE2K_ENST00000445950.2_Missense_Mutation_p.P82S|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	82					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						AATATGGCATCCTAATATTAG	0.338000													8	94					0	0	0.000274275	0	0
TRPM6	140803	broad.mit.edu	37	9	77417015	77417015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:77417015C>T	ENST00000451710.3	-	16	2045	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D	TRPM6_ENST00000449912.2_Missense_Mutation_p.G598D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G598D|TRPM6_ENST00000360774.1_Missense_Mutation_p.G603D|TRPM6_ENST00000376864.4_Missense_Mutation_p.G603D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	603					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAAAGAAAGCCAGTAGACTC	0.423000													10	37					0	0	0.000673444	0	0
IPO4	79711	broad.mit.edu	37	14	24652822	24652822	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:24652822G>A	ENST00000354464.6	-	20	2213	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	679					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTCCCCCACGGCAGCACAGG	0.577000													7	18					0	0	0.000157383	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905118	73905118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:73905118C>T	ENST00000342056.2	+	15	3235	c.2837C>T	c.(2836-2838)cCt>cTt	p.P946L	KCNQ5_ENST00000414165.2_Missense_Mutation_p.P817L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P927L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P927L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P928L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P918L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P937L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	927					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTCAGCTTGCCTCATGTCAAA	0.423000													15	66					0	0	0.000219431	0	0
SNX15	29907	broad.mit.edu	37	11	64802341	64802341	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:64802341C>T	ENST00000377244.3	+	4	409	c.279C>T	c.(277-279)atC>atT	p.I93I	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	93	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCAGTGATCGAGGAGCGGC	0.617000													7	40					0	0	0.000673444	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528505	65528505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:65528505C>T	ENST00000310193.3	-	3	766	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	198					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATAACTTTTCCATATATAGT	0.328000													11	51					0	0	0.000978159	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111768813	111768813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:111768813C>T	ENST00000452346.2	+	8	1085	c.1082C>T	c.(1081-1083)cCa>cTa	p.P361L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P235L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	361					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAGGTCATTCCAGAACAAAGT	0.353000													7	62					0	0	0.000274275	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67320969	67320969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:67320969C>T	ENST00000360461.5	+	17	5527	c.2992C>T	c.(2992-2994)Cgc>Tgc	p.R998C	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R917C|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R998C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R998C	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	998	PH.			R -> G (in Ref. 3; AAH54486).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTGGTTCCGCCGCCGCAAGGC	0.627000													6	24					0	0	3.59834e-05	0	0
NEXN	91624	broad.mit.edu	37	1	78383922	78383922	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:78383922G>A	ENST00000330010.8	+	4	516	c.219G>A	c.(217-219)agG>agA	p.R73R	NEXN_ENST00000457030.1_Silent_p.R137R|NEXN_ENST00000294624.8_Silent_p.R137R|NEXN_ENST00000334785.7_Silent_p.R137R	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	137	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TAGAAAAGAGGAAAATACAGC	0.378000													7	44					0	0	8.12818e-05	0	0
MOV10L1	54456	broad.mit.edu	37	22	50584155	50584155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:50584155G>A	ENST00000262794.5	+	19	2626	c.2543G>A	c.(2542-2544)gGa>gAa	p.G848E	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G848E|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G828E|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G848E	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	848					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCAGAGACGGAGAAGACATC	0.498000													12	80					0	0	0.00010058	0	0
FLNB	2317	broad.mit.edu	37	3	58084611	58084611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:58084611C>T	ENST00000357272.4	+	8	1486	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	FLNB_ENST00000493452.1_Missense_Mutation_p.P272S|FLNB_ENST00000490882.1_Missense_Mutation_p.P441S|FLNB_ENST00000429972.2_Missense_Mutation_p.P441S|FLNB_ENST00000348383.5_Missense_Mutation_p.P441S|FLNB_ENST00000358537.3_Missense_Mutation_p.P441S|FLNB_ENST00000295956.4_Missense_Mutation_p.P441S|FLNB_ENST00000419752.2_Missense_Mutation_p.P272S			O75369	FLNB_HUMAN	filamin B, beta	441					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCTAAGAGTCCCTTCGTTGT	0.547000													11	44					0	0	0.000978159	0	0
OR51M1	390059	broad.mit.edu	37	11	5410752	5410752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:5410752C>T	ENST00000328611.3	+	1	146	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	42						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTTTCATCCCCTTTTTCTT	0.413000													6	99					0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179450006	179450006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179450006G>A	ENST00000589042.1	-	309	64689	c.64465C>T	c.(64465-64467)Cat>Tat	p.H21489Y	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H12616Y|TTN_ENST00000359218.5_Missense_Mutation_p.H12549Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H12424Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H19848Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H18921Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19848	Fibronectin type-III 55.						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)			CCATACACATGGGCTTCAATT	0.413000													38	185					0	0	0.000814825	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658662	167658662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:167658662C>T	ENST00000357154.3	-	11	1234	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	SPOCK3_ENST00000535728.1_Missense_Mutation_p.G234E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G270E|SPOCK3_ENST00000512681.1_Missense_Mutation_p.G268E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G315E|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G363E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G268E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G363E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G323E|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G246E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G366E|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G363E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	366	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.G363E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTTCATTTCCATATCTGTC	0.403000													25	126					0	0	0.000878237	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595556	11595556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:11595556C>T	ENST00000294484.6	+	20	3809	c.3671C>T	c.(3670-3672)aCc>aTc	p.T1224I	PTCHD2_ENST00000304391.6_Silent_p.D110D|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1224I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1224					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTGGTGGTGACCATCATGTAC	0.642000													9	59					0	0	0.000442599	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484180	45484180	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:45484180C>T	ENST00000359600.5	-	14	3709	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1168							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTTGTAGATCTGTTTGAGGT	0.532000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	115					0	0	0.000295444	0	0
MED12L	116931	broad.mit.edu	37	3	151067846	151067846	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:151067846G>T	ENST00000474524.1	+	15	2183		c.e15-1		MED12L_ENST00000273432.4_Splice_Site|MED12L_ENST00000491549.1_Splice_Site|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTTTTTCAGGATGAATCTT	0.463000													8	269					0.000442599	0.00637372	0.000442599	1	0
GRHL2	79977	broad.mit.edu	37	8	102555576	102555576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:102555576C>T	ENST00000251808.3	+	2	466	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GRHL2_ENST00000395927.1_Missense_Mutation_p.P27L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	43	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGGAGAATCCCCTGACAGCA	0.542000													8	85					0	0	0.000274275	0	0
GCNT3	9245	broad.mit.edu	37	15	59911588	59911588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:59911588G>A	ENST00000396065.1	+	3	1599	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	GCNT3_ENST00000560585.1_Missense_Mutation_p.G384E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	384					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCTGCTCTGGAATCCACCAG	0.507000													23	111					0	0	0.000295444	0	0
CERS2	29956	broad.mit.edu	37	1	150941453	150941453	+	Silent	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:150941453A>G	ENST00000271688.6	-	2	500	c.114T>C	c.(112-114)gaT>gaC	p.D38D	CERS2_ENST00000368954.5_Silent_p.D38D|CERS2_ENST00000561294.1_Silent_p.D38D|CERS2_ENST00000345896.4_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	38						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGATATAGAGATCTGAGGCTT	0.532000													8	82					0	0	0.000274275	0	0
CCDC142	84865	broad.mit.edu	37	2	74709766	74709766	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:74709766A>T	ENST00000393965.3	-	1	595	c.199T>A	c.(199-201)Tac>Aac	p.Y67N	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.Y67N	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	67										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCAGCCTCGTAGTCCTCGCTC	0.716000													11	32					0	0	0.000219431	0	0
KIF4A	24137	broad.mit.edu	37	X	69615626	69615626	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:69615626C>G	ENST00000374403.3	+	21	2420	c.2338C>G	c.(2338-2340)Caa>Gaa	p.Q780E	KIF4A_ENST00000374388.3_Missense_Mutation_p.Q780E	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	780	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGATGTGGCTCAACTCAAAGA	0.433000													7	12					0	0	8.12818e-05	0	0
CCR3	1232	broad.mit.edu	37	3	46307036	46307036	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:46307036C>T	ENST00000357422.2	+	4	930	c.387C>T	c.(385-387)atC>atT	p.I129I	CCR3_ENST00000541018.1_Silent_p.I129I|CCR3_ENST00000395940.2_Silent_p.I129I|CCR3_ENST00000545097.1_Silent_p.I150I|CCR3_ENST00000395942.2_Silent_p.I129I			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	129					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGCTGACAATCGACAGGTACC	0.522000													19	55					0	0	0.000958276	0	0
RPS7	6201	broad.mit.edu	37	2	3627805	3627805	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:3627805A>G	ENST00000407445.3	+	6	509	c.462A>G	c.(460-462)atA>atG	p.I154M	RPS7_ENST00000403564.1_Missense_Mutation_p.I154M|RPS7_ENST00000304921.5_Missense_Mutation_p.I154M|RPS7_ENST00000406376.1_Missense_Mutation_p.I154M			P62081	RS7_HUMAN	ribosomal protein S7	154					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCCGGCTCATAAAGGTTCATT	0.468000													10	58					0	0	0.000673444	0	0
FAM124B	79843	broad.mit.edu	37	2	225266283	225266283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:225266283G>A	ENST00000389874.3	-	1	428	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FAM124B_ENST00000243806.2_Missense_Mutation_p.S68F|FAM124B_ENST00000409685.3_Missense_Mutation_p.S68F	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	68							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGCAACACGGACATCCCTGG	0.572000													8	30					0	0	0.000274275	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058562	67058562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:67058562C>T	ENST00000295568.4	+	4	1612	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	KBTBD8_ENST00000460576.1_Missense_Mutation_p.S78F|KBTBD8_ENST00000417314.2_Missense_Mutation_p.S520F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	520										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGTGATCAGTCCATAAATCCA	0.388000													15	79					0	0	0.000219431	0	0
SV2B	9899	broad.mit.edu	37	15	91795180	91795180	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:91795180G>C	ENST00000394232.1	+	3	1053	c.583G>C	c.(583-585)Gtg>Ctg	p.V195L	SV2B_ENST00000545111.2_Missense_Mutation_p.V44L|SV2B_ENST00000330276.4_Missense_Mutation_p.V195L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	195					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTCTTCCTTCGTGCAGGGATA	0.587000													31	231					0	0	0.000953801	0	0
STYK1	55359	broad.mit.edu	37	12	10774478	10774478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:10774478G>A	ENST00000075503.3	-	10	1581	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	354	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTTACATGGTATGTGTGCA	0.468000										HNSCC(73;0.22)			15	82					0	0	0.000422831	0	0
OR2A12	346525	broad.mit.edu	37	7	143792740	143792740	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:143792740C>T	ENST00000408949.2	+	1	600	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	180					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)					TCTGTCAAATCATGTCCGTAT	0.483000													16	96					0	0	0.000308642	0	0
PHF14	9678	broad.mit.edu	37	7	11101640	11101640	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:11101640A>G	ENST00000403050.3	+	16	3034	c.2582A>G	c.(2581-2583)aAg>aGg	p.K861R	PHF14_ENST00000445996.2_Missense_Mutation_p.K576R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	861							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTGCAAAAGAAGCCCAAGGCT	0.368000													3	18					0	0	6.4e-05	0	0
COL6A3	1293	broad.mit.edu	37	2	238285737	238285737	+	Silent	SNP	C	C	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:238285737C>A	ENST00000295550.4	-	7	3200	c.2748G>T	c.(2746-2748)ctG>ctT	p.L916L	COL6A3_ENST00000353578.4_Silent_p.L710L|COL6A3_ENST00000409809.1_Silent_p.L710L|COL6A3_ENST00000392003.2_Silent_p.L509L|COL6A3_ENST00000347401.3_Silent_p.L715L|COL6A3_ENST00000346358.4_Silent_p.L716L|COL6A3_ENST00000392004.3_Silent_p.L710L|COL6A3_ENST00000472056.1_Silent_p.L309L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	916	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGCGTAGCCCAGGTTGAGGG	0.527000													12	59					6.40141e-05	0.000934219	0.000978159	1	0
GRM8	2918	broad.mit.edu	37	7	126249460	126249460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:126249460C>T	ENST00000339582.2	-	8	2258	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.E484K|GRM8_ENST00000358373.3_Missense_Mutation_p.E484K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	484					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTTTGTACTCTGTGCTTTTG	0.403000										HNSCC(24;0.065)			24	112					0	0	0.000720815	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977268	12977268	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:12977268G>A	ENST00000273221.4	-	3	1506	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	430					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCCCGGGGGAGGCTCTTGG	0.692000													6	22					0	0	3.59834e-05	0	0
OR10H2	26538	broad.mit.edu	37	19	15839540	15839540	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:15839540C>T	ENST00000305899.3	+	1	707	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTTGAAGATCCCTTCTGCTG	0.537000													16	53					0	0	0.000422831	0	0
CDC37	11140	broad.mit.edu	37	19	10506832	10506832	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:10506832C>T	ENST00000222005.2	-	2	203	c.150G>A	c.(148-150)ctG>ctA	p.L50L		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	50					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGCCCCTGTCCAGTTCCTCCT	0.662000													10	55					0	0	0.000978159	0	0
ALB	213	broad.mit.edu	37	4	74274451	74274451	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:74274451C>T	ENST00000295897.4	+	4	500	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Silent_p.P137P	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	137	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAACCTCCCCCGATTGGTGA	0.398000													4	32					0	0	0.000602214	0	0
ZNF225	7768	broad.mit.edu	37	19	44635207	44635207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:44635207C>T	ENST00000262894.6	+	5	720	c.440C>T	c.(439-441)cCt>cTt	p.P147L	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.P147L	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	147				RQKP -> KTET (in Ref. 1; AAF04107).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGACAGAAACCTTCTGAGGGT	0.413000													19	142					0	0	0.00074312	0	0
MUC17	140453	broad.mit.edu	37	7	100678178	100678178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100678178C>T	ENST00000306151.4	+	3	3545	c.3481C>T	c.(3481-3483)Ccg>Tcg	p.P1161S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1161	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACCACTCCGTTAGCAAG	0.522000													42	194					0	0	0.000319135	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326291	52326291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:52326291C>T	ENST00000354773.4	+	4	641	c.545C>T	c.(544-546)cCt>cTt	p.P182L	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Silent_p.L157L|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Silent_p.L114L|GLYCTK_ENST00000436784.2_Silent_p.L241L|GLYCTK_ENST00000477382.1_Missense_Mutation_p.P182L|GLYCTK_ENST00000305690.8_Silent_p.L241L	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	412					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GAGCCTCATCCTGTCAGATGT	0.592000													6	41					0	0	8.12818e-05	0	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:98810890G>A	ENST00000477737.1	+	12	1876	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E558K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E408K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	558	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000													36	204					0	0	0.00111076	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	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				14	60					0	0	0.000308642	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													10	55					0	0	0.000151284	0	0
PDE10A	10846	broad.mit.edu	37	6	165756929	165756929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:165756929G>A	ENST00000366882.1	-	20	2172	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	PDE10A_ENST00000539869.2_Missense_Mutation_p.P683L|PDE10A_ENST00000354448.4_Missense_Mutation_p.P673L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	673					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTTTGTAACGGGCCACAGTTT	0.388000													9	55					0	0	0.000274275	0	0
ITIH1	3697	broad.mit.edu	37	3	52823754	52823754	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:52823754C>T	ENST00000273283.2	+	19	2229	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	ITIH1_ENST00000540715.1_Silent_p.I593I|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.I447I|ITIH1_ENST00000405128.3_Silent_p.I101I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	735	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGCTGGGAATCGCAAACCCTG	0.577000													12	73					0	0	0.000978159	0	0
HOXA4	3201	broad.mit.edu	37	7	27169084	27169084	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:27169084G>A	ENST00000360046.5	-	2	788	c.723C>T	c.(721-723)acC>acT	p.T241T	HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Silent_p.T241T|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	241						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGCGCCGCCGGGTCAGGTATC	0.577000													9	63					0	0	0.00010058	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107818	55107818	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:55107818A>C	ENST00000474759.1	+	37	3163	c.3115A>C	c.(3115-3117)Aag>Cag	p.K1039Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.K945Q|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K1039Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K1039Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1039						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGAATCCCTTAAGTGTGAACG	0.423000													8	25					0	0	0.000442599	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512977	69512977	+	Missense_Mutation	SNP	C	C	T	rs146368165	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:69512977C>T	ENST00000338206.5	-	6	1447	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	480					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGTGAGCTGCGACTCGAAGG	0.478000													12	93					0	0	0.000978159	0	0
OR51A4	401666	broad.mit.edu	37	11	4967467	4967467	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:4967467C>T	ENST00000380373.2	-	1	889	c.864G>A	c.(862-864)acG>acA	p.T288T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	288			T -> M (in dbSNP:rs2442426).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		CAATTGGGTTCGTCAGTGGAG	0.428000													9	140					0	0	0.000442599	0	0
KIF14	9928	broad.mit.edu	37	1	200522523	200522523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:200522523C>T	ENST00000367350.4	-	30	5378	c.4940G>A	c.(4939-4941)tGg>tAg	p.W1647*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1647	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TATTCACACCCACTGAATCCT	0.448000													16	110					0	0	0.000958276	0	0
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:124195487G>A	ENST00000518448.1	+	2	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K|FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612000													9	63					0	0	0.000274275	0	0
AKT3	10000	broad.mit.edu	37	1	243828126	243828126	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:243828126G>T	ENST00000366539.1	-	4	432	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	AKT3_ENST00000366540.1_Missense_Mutation_p.Q78K|AKT3_ENST00000336199.5_Missense_Mutation_p.Q78K|AKT3_ENST00000263826.5_Missense_Mutation_p.Q78K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	78	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q78K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GTAGTCCACTGGAGACATCTG	0.308000													7	73					6.42651e-13	9.4742e-12	0.000978159	1	0
ZAN	7455	broad.mit.edu	37	7	100361534	100361534	+	RNA	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100361534A>G	ENST00000542585.1	+	0	4240				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCATGGCCCATTTGAGTATG	0.592000													6	79					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9085769	9085769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:9085769G>A	ENST00000397910.4	-	1	6249	c.6046C>T	c.(6046-6048)Cat>Tat	p.H2016Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2016	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCTCATGGGTAGGGGAA	0.463000													8	64					0	0	0.000274275	0	0
CA8	767	broad.mit.edu	37	8	61178492	61178492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:61178492G>A	ENST00000317995.4	-	3	673	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	137					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ACCTCCATGGGAAAAGCTTTG	0.358000													4	36					0	0	0.00024832	0	0
CCR6	1235	broad.mit.edu	37	6	167550187	167550187	+	Nonsense_Mutation	SNP	C	C	T	rs139697820		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:167550187C>T	ENST00000341935.5	+	3	1021	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CCR6_ENST00000400926.2_Nonsense_Mutation_p.R157*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.R157*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	157					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ATTCCGGCTCCGATCCAGAAC	0.488000													12	55					0	0	0.00010058	0	0
ABCC8	6833	broad.mit.edu	37	11	17450174	17450174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:17450174C>T	ENST00000302539.4	-	13	1986	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E621K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	621					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACTGCTCCTCACGGATCTCT	0.652000													14	93					0	0	0.000566183	0	0
UROS	7390	broad.mit.edu	37	10	127486659	127486659	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:127486659G>A	ENST00000368797.4	-	7	674	c.450C>T	c.(448-450)atC>atT	p.I150I	UROS_ENST00000368786.1_Silent_p.I150I|UROS_ENST00000462490.1_5'UTR	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	150					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CTTTTGGCAGGATTTCTCTTT	0.493000													8	42					0	0	0.000978159	0	0
INPP5D	3635	broad.mit.edu	37	2	234072391	234072391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:234072391C>T	ENST00000359570.5	+	14	1243	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F	INPP5D_ENST00000538935.1_Missense_Mutation_p.L414F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L179F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L179F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	427					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCCTGGTTTCTCTCCAAGGG	0.547000													9	101					0	0	0.000442599	0	0
ABCD3	5825	broad.mit.edu	37	1	94953464	94953464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:94953464G>A	ENST00000370214.4	+	13	1106	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.G385E|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.G288E	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	361	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TACCAAAGTGGAAGAATGCTT	0.328000													9	49					0	0	0.00010058	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559719	20559719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:20559719G>A	ENST00000329697.6	-	7	1139	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ACSM2B_ENST00000567001.1_Missense_Mutation_p.S324F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S324F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S245F|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	324					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						CCATCACCTGGAAAGATCCTG	0.498000													14	45					0	0	0.000566183	0	0
ITGB2	3689	broad.mit.edu	37	21	46310042	46310042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:46310042G>A	ENST00000397850.2	-	13	1960	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	ITGB2_ENST00000302347.5_Missense_Mutation_p.S503F|ITGB2_ENST00000397854.3_Missense_Mutation_p.S446F|ITGB2_ENST00000355153.4_Missense_Mutation_p.S503F|ITGB2_ENST00000397857.1_Missense_Mutation_p.S503F|ITGB2_ENST00000397852.1_Missense_Mutation_p.S503F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	503	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCAGATGATGGAGTTGTTGTC	0.607000													4	22					0	0	0.00024832	0	0
ZNF578	147660	broad.mit.edu	37	19	53015138	53015138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:53015138C>T	ENST00000421239.2	+	6	1748	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCATGCCATCGTAGACTTCA	0.403000													6	49					0	0	3.59834e-05	0	0
BAHD1	22893	broad.mit.edu	37	15	40758203	40758203	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:40758203C>T	ENST00000561234.1	+	7	2473	c.2214C>T	c.(2212-2214)ccC>ccT	p.P738P	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000416165.1_Silent_p.P739P|BAHD1_ENST00000560846.1_Silent_p.P736P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	739	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACTGGTTCCCCCCTCTGCAG	0.597000													19	80					0	0	0.000295444	0	0
FRK	2444	broad.mit.edu	37	6	116289877	116289877	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:116289877G>A	ENST00000606080.1	-	3	938	c.492C>T	c.(490-492)caC>caT	p.H164H	FRK_ENST00000538210.1_Silent_p.H22H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	164	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TAATTCTGTAGTGTTTTACAA	0.363000													13	72					0	0	0.000219431	0	0
RTEL1	51750	broad.mit.edu	37	20	62326851	62326851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:62326851G>A	ENST00000318100.4	+	34	4497	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	RTEL1_ENST00000508582.2_Intron|RTEL1_ENST00000370003.1_Missense_Mutation_p.D469N|RTEL1_ENST00000360203.5_Missense_Mutation_p.D1224N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D1224N|RTEL1_ENST00000370018.3_Intron			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCATGGGAGAGACATCGCTGG	0.697000													21	49					0	0	0.000229342	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:34998865G>A	ENST00000231420.6	-	14	1704	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000													10	65					0	0	0.000673444	0	0
IGFL2	147920	broad.mit.edu	37	19	46663934	46663934	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:46663934A>G	ENST00000434646.2	+	4	461	c.170A>G	c.(169-171)aAc>aGc	p.N57S	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.N46S|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	46						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		AAGATCTACAACCCCTTGGAG	0.592000													18	164					0	0	0.000958276	0	0
TRBV19	28568	broad.mit.edu	37	7	142326843	142326843	+	RNA	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142326843C>T	ENST00000390393.3	+	0	349																											AGAATTTGAACCACGATGCCA	0.468000													36	114					0	0	0.000953801	0	0
PHRF1	57661	broad.mit.edu	37	11	587263	587263	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:587263C>T	ENST00000264555.5	+	4	347	c.219C>T	c.(217-219)tcC>tcT	p.S73S	PHRF1_ENST00000533464.1_Silent_p.S69S|PHRF1_ENST00000413872.2_Silent_p.S72S|PHRF1_ENST00000416188.2_Silent_p.S73S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	73							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCCAGGTTCCGAGGATTCTG	0.597000													4	13					0	0	0.000602214	0	0
FBXO24	26261	broad.mit.edu	37	7	100189493	100189493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100189493C>T	ENST00000241071.6	+	4	848	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	FBXO24_ENST00000360609.2_Missense_Mutation_p.R162C|FBXO24_ENST00000427939.2_Missense_Mutation_p.R214C|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R164C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R162C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	176						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGGGCCTGTCGCTATGTTGT	0.527000													11	55					0	0	0.000978159	0	0
FGFR2	2263	broad.mit.edu	37	10	123298196	123298196	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:123298196T>A	ENST00000358487.5	-	6	930	c.658A>T	c.(658-660)Agt>Tgt	p.S220C	FGFR2_ENST00000357555.5_Missense_Mutation_p.S131C|FGFR2_ENST00000369060.4_Missense_Mutation_p.S220C|FGFR2_ENST00000346997.2_Missense_Mutation_p.S220C|FGFR2_ENST00000457416.2_Missense_Mutation_p.S220C|FGFR2_ENST00000351936.6_Missense_Mutation_p.S220C|FGFR2_ENST00000369056.1_Missense_Mutation_p.S220C|FGFR2_ENST00000356226.4_Missense_Mutation_p.S105C|FGFR2_ENST00000369059.1_Missense_Mutation_p.S105C|FGFR2_ENST00000360144.3_Missense_Mutation_p.S131C|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.S220C|FGFR2_ENST00000369061.4_Missense_Mutation_p.S220C	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	220	Ig-like C2-type 2.				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)	GGGACCACACTTTCCATAATG	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				7	34					0	0	0.000157383	0	0
PRSS1	5644	broad.mit.edu	37	7	142460296	142460296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142460296G>A	ENST00000486171.1	+	5	528	c.511G>A	c.(511-513)Gag>Aag	p.E171K	PRSS1_ENST00000311737.7_Missense_Mutation_p.E157K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	157	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)			CTACCCAGACGAGCTGCAGTG	0.507000													25	234					0	0	0.000227799	0	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		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)				ATAGTATTTCGATCCACAACA	0.393000													16	68					0	0	0.000422831	0	0
SORBS2	8470	broad.mit.edu	37	4	186548051	186548051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:186548051C>T	ENST00000431808.1	-	13	1420	c.857G>A	c.(856-858)gGa>gAa	p.G286E	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.G286E|SORBS2_ENST00000319471.9_Missense_Mutation_p.G444E|SORBS2_ENST00000448662.2_Missense_Mutation_p.G374E|SORBS2_ENST00000418609.1_Missense_Mutation_p.G190E|SORBS2_ENST00000355634.5_Missense_Mutation_p.G386E|SORBS2_ENST00000437304.2_Missense_Mutation_p.G537E|SORBS2_ENST00000393528.3_Missense_Mutation_p.G379E|SORBS2_ENST00000449407.2_Missense_Mutation_p.G357E			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	286						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGTGCTTGATCCTGGGAGGTC	0.512000													15	91					0	0	0.000308642	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:28225794C>T	ENST00000305242.5	-	15	2205	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_ENST00000545014.1_Missense_Mutation_p.E230K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E397K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000													12	49					0	0	0.000151284	0	0
ETV1	2115	broad.mit.edu	37	7	13949261	13949261	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:13949261G>A	ENST00000343495.5	-	10	1620	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ETV1_ENST00000403527.1_Silent_p.F272F|ETV1_ENST00000242066.5_Silent_p.F294F|ETV1_ENST00000399357.3_Silent_p.F209F|ETV1_ENST00000403685.1_Silent_p.F294F|ETV1_ENST00000420159.2_Silent_p.F254F|ETV1_ENST00000405358.4_Silent_p.F326F|ETV1_ENST00000405218.2_Silent_p.F312F|ETV1_ENST00000405192.2_Silent_p.F289F|ETV1_ENST00000430479.1_Silent_p.F312F			P50549	ETV1_HUMAN	ets variant 1	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTACCATCGAATTTTTCTG	0.383000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								16	136					0	0	0.000958276	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387548	41387548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:41387548C>T	ENST00000301146.4	-	2	830	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	97						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)			CCGCTGAACTCCTCAGCCTGG	0.642000													5	51					0	0	0.000442599	0	0
ALPI	248	broad.mit.edu	37	2	233323358	233323358	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:233323358G>A	ENST00000295463.3	+	10	1277	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	400					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCCAGCAAGGCTCAGGACA	0.607000													7	14					0	0	0.000274275	0	0
DENND2A	27147	broad.mit.edu	37	7	140301949	140301949	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:140301949C>T	ENST00000275884.6	-	2	666	c.249G>A	c.(247-249)agG>agA	p.R83R	DENND2A_ENST00000492720.1_Silent_p.R83R|DENND2A_ENST00000496613.1_Silent_p.R83R|DENND2A_ENST00000537639.1_Silent_p.R83R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	83										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATCACTACTCCTCCTCTCCA	0.537000													12	71					0	0	0.00010058	0	0
ZBBX	79740	broad.mit.edu	37	3	167000208	167000208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:167000208G>A	ENST00000392766.2	-	19	2295	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	ZBBX_ENST00000307529.5_Missense_Mutation_p.S691L|ZBBX_ENST00000455345.2_Missense_Mutation_p.S691L|ZBBX_ENST00000392767.2_Missense_Mutation_p.S652L|ZBBX_ENST00000392764.1_Missense_Mutation_p.S623L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	652	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGAGAGGATGAAAGGCAACT	0.353000													31	181					0	0	0.000491102	0	0
SEC22B	9554	broad.mit.edu	37	1	145115934	145115934	+	RNA	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:145115934A>G	ENST00000453618.1	+	0	1020							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGAACCCAGTAGGTGTATATT	0.398000													6	113					0	0	8.12818e-05	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:57228854G>A	ENST00000396721.2	-	2	183	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_ENST00000303749.3_Missense_Mutation_p.S18L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.S18L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000													7	44					0	0	0.000274275	0	0
ATP11B	23200	broad.mit.edu	37	3	182631767	182631767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:182631767C>T	ENST00000323116.5	+	29	3697	c.3437C>T	c.(3436-3438)cCa>cTa	p.P1146L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1146					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATGTAGTCCAACCCACATC	0.473000													22	102					0	0	0.000229342	0	0
ZNF638	27332	broad.mit.edu	37	2	71577070	71577070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:71577070C>T	ENST00000409544.1	+	2	1616	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ZNF638_ENST00000355812.3_Missense_Mutation_p.P329L|ZNF638_ENST00000264447.4_Missense_Mutation_p.P329L|ZNF638_ENST00000377802.2_Missense_Mutation_p.P329L|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	329					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTGATTCCTCCATCTATG	0.413000													17	147					0	0	0.000132079	0	0
IGSF10	285313	broad.mit.edu	37	3	151156350	151156350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:151156350G>A	ENST00000282466.3	-	6	5998	c.5999C>T	c.(5998-6000)tCc>tTc	p.S2000F	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2000	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATAAACAGGGATCCATTAGG	0.433000													12	53					0	0	0.000308642	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:48346606C>T	ENST00000319856.4	+	1	135	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000													8	84					0	0	0.000157383	0	0
ZNF211	10520	broad.mit.edu	37	19	58152517	58152517	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:58152517C>T	ENST00000544273.1	+	5	1026	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ZNF211_ENST00000254182.7_Silent_p.A212A|ZNF211_ENST00000391703.3_Silent_p.A160A|ZNF211_ENST00000240731.4_Silent_p.A234A|ZNF211_ENST00000299871.5_Silent_p.A286A|ZNF211_ENST00000541801.1_Silent_p.A212A|ZNF211_ENST00000420680.1_Silent_p.A225A|ZNF211_ENST00000347302.3_Silent_p.A221A			Q13398	ZN211_HUMAN	zinc finger protein 211	221						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCGGTGGCCTTTTACAGTG	0.468000													5	61					0	0	0.000602214	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Translation_Start_Site	SNP	T	T	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:58145436T>A	ENST00000540325.1	-	0	235				CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000257904.6_Missense_Mutation_p.K22M|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Missense_Mutation_p.K22M			P11802	CDK4_HUMAN	cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	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)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma				12	33					0	0	0.00010058	0	0
TKTL1	8277	broad.mit.edu	37	X	153524338	153524338	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:153524338G>A	ENST00000369915.3	+	1	315	c.126G>A	c.(124-126)acG>acA	p.T42T	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	42					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCTCCACGAGCTCCGGGT	0.617000													19	47					0	0	0.000375601	0	0
ABCD3	5825	broad.mit.edu	37	1	94953463	94953463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:94953463G>A	ENST00000370214.4	+	13	1105	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.G385R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.G288R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	361	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTACCAAAGTGGAAGAATGCT	0.328000													9	47					0	0	0.00010058	0	0
PKD1	5310	broad.mit.edu	37	16	2159259	2159259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:2159259G>A	ENST00000262304.4	-	15	6117	c.5909C>T	c.(5908-5910)gCc>gTc	p.A1970V	PKD1_ENST00000423118.1_Missense_Mutation_p.A1970V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1970	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACTCACGGCCTCCAGCAC	0.697000													6	32					0	0	3.59834e-05	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312982	153312982	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:153312982C>T	ENST00000368739.3	-	7	1045	c.687G>A	c.(685-687)gcG>gcA	p.A229A	PGLYRP4_ENST00000359650.5_Silent_p.A233A			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	233					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCATACTTCGCTGGGAGAG	0.597000													6	28					0	0	8.12818e-05	0	0
ANPEP	290	broad.mit.edu	37	15	90349755	90349755	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:90349755C>T	ENST00000300060.6	-	2	373	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	20			V -> M (in dbSNP:rs10152474).		angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACACGGCTGCCACGCCCAGGA	0.632000													6	39					0	0	3.59834e-05	0	0
PSD4	23550	broad.mit.edu	37	2	113942615	113942615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:113942615G>A	ENST00000245796.6	+	3	1333	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	PSD4_ENST00000441564.2_Missense_Mutation_p.D380N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	380					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tgtcggatctgatcttggccc	0.537000													18	96					0	0	0.000566183	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124202	142124202	+	RNA	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142124202G>A	ENST00000390376.2	-	0	275																											GCCTGAGTGGGAAATCCTCTG	0.512000													33	138					0	0	0.00111076	0	0
ANGPT1	284	broad.mit.edu	37	8	108315569	108315569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:108315569C>T	ENST00000520734.1	-	4	520	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.E78K			Q15389	ANGP1_HUMAN	angiopoietin 1	279					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGTTTCTCTTCCTCTCTTTTT	0.308000													12	78					0	0	0.00010058	0	0
CNOT10	25904	broad.mit.edu	37	3	32776307	32776307	+	Silent	SNP	G	G	A	rs147797250	by1000genomes	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:32776307G>A	ENST00000328834.5	+	12	1669	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S	CNOT10_ENST00000538368.1_Silent_p.S223S|CNOT10_ENST00000454516.2_Silent_p.S511S|CNOT10_ENST00000331889.6_Silent_p.S451S|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	451					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GGCAGTCTTCGGCCATTCCTG	0.383000													30	169					0	0	0.00058488	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	63					0	0	0.00074312	0	0
CAMK4	814	broad.mit.edu	37	5	110819937	110819937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:110819937G>A	ENST00000282356.4	+	11	1593	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A399T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	399					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAAGGTGCAAGCCTTAGAGAA	0.512000													8	35					0	0	0.000274275	0	0
STXBP4	252983	broad.mit.edu	37	17	53155458	53155458	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:53155458A>G	ENST00000376352.2	+	14	1415	c.1208A>G	c.(1207-1209)aAa>aGa	p.K403R	STXBP4_ENST00000434978.2_Missense_Mutation_p.K381R	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	403						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CAGGATTTAAAAAAGAGAATC	0.353000													17	47					0	0	0.00074312	0	0
ADPRH	141	broad.mit.edu	37	3	119301094	119301094	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:119301094C>T	ENST00000478399.1	+	2	1483	c.78C>T	c.(76-78)ttC>ttT	p.F26F	ADPRH_ENST00000465513.1_Silent_p.F26F|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000478927.1_Silent_p.F26F|ADPRH_ENST00000357003.3_Silent_p.F26F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	26					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.F26F(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGAGTTCCTCCAGGATG	0.572000													10	41					0	0	0.000442599	0	0
MFNG	4242	broad.mit.edu	37	22	37876777	37876777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:37876777C>T	ENST00000356998.3	-	2	509	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	MFNG_ENST00000416983.3_Intron	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	96					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TCCTGGAGGCCTTTGTCTGGG	0.617000													4	15					0	0	0.00024832	0	0
MGA	23269	broad.mit.edu	37	15	42057258	42057258	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:42057258C>A	ENST00000219905.7	+	23	8100	c.7919C>A	c.(7918-7920)cCa>cAa	p.P2640Q	MGA_ENST00000566586.1_Missense_Mutation_p.P2431Q|MGA_ENST00000545763.1_Missense_Mutation_p.P2431Q|MGA_ENST00000570161.1_Missense_Mutation_p.P2640Q|MGA_ENST00000389936.4_Missense_Mutation_p.P2601Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2601						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGGCTCTACCAGGTATGTTG	0.443000													9	160					0.000274275	0.00397608	0.000274275	1	0
FAM3B	54097	broad.mit.edu	37	21	42720634	42720634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:42720634G>A	ENST00000398652.3	+	8	784	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.E201K|FAM3B_ENST00000398646.3_Missense_Mutation_p.E224K|FAM3B_ENST00000398647.3_Missense_Mutation_p.E153K			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	201					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				ACTCCCTTCCGAAATTCAGAG	0.413000													10	43					0	0	0.000442599	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910836	230910836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:230910836G>A	ENST00000295190.4	-	4	1464	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	336						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTGGGAGGTGAATGAAGGGG	0.403000													8	40					0	0	0.000274275	0	0
NELL1	4745	broad.mit.edu	37	11	21581772	21581772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:21581772G>A	ENST00000298925.5	+	18	2061	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	NELL1_ENST00000325319.5_Nonsense_Mutation_p.W551*|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Nonsense_Mutation_p.W608*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.W561*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	608	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACACCTGTTGGAACGATTCTG	0.512000													10	96					0	0	0.000978159	0	0
MTMR3	8897	broad.mit.edu	37	22	30416562	30416562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:30416562C>T	ENST00000333027.3	+	17	3242	c.2914C>T	c.(2914-2916)Cgt>Tgt	p.R972C	MTMR3_ENST00000401950.2_Missense_Mutation_p.R972C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R836C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R972C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R972C|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	972					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCACTGAGCCGTCAGCTGTC	0.582000													9	43					0	0	0.000978159	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021673	51021673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:51021673G>A	ENST00000599957.1	-	3	1494	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.Q433*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	433	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGTGTACTGGCCCGTGTCC	0.677000													7	57					0	0	0.000442599	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033313	95033313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:95033313G>A	ENST00000557004.1	+	3	1077	c.656G>A	c.(655-657)tGg>tAg	p.W219*	SERPINA4_ENST00000298841.5_Nonsense_Mutation_p.W219*|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Nonsense_Mutation_p.W219*			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	219					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAGCCCTGTGGGAGAAACCA	0.517000													9	48					0	0	0.00010058	0	0
THRB	7068	broad.mit.edu	37	3	24231676	24231676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:24231676G>A	ENST00000396671.2	-	5	520	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	THRB_ENST00000356447.4_Missense_Mutation_p.L58F|THRB_ENST00000416420.1_Missense_Mutation_p.L58F	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	58	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTGGATGAGATGTGGCGAC	0.498000													6	71					0	0	0.000157383	0	0
PDZD4	57595	broad.mit.edu	37	X	153069219	153069219	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:153069219G>A	ENST00000164640.4	-	8	2090	c.1899C>T	c.(1897-1899)acC>acT	p.T633T	PDZD4_ENST00000393758.2_Silent_p.T558T|PDZD4_ENST00000544474.1_Silent_p.T524T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	633						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGTAGCGGGTTCCGTCGC	0.706000													12	26					0	0	0.000151284	0	0
APOB	338	broad.mit.edu	37	2	21231507	21231507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:21231507G>A	ENST00000233242.1	-	26	8360	c.8233C>T	c.(8233-8235)Cac>Tac	p.H2745Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2745					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)	TGTGAGATGTGGGGAAGCTGG	0.393000													75	420					0	0	0.000781405	0	0
KRT34	3885	broad.mit.edu	37	17	39535984	39535984	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:39535984C>T	ENST00000394001.1	-	4	745		c.e4-1			NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34						epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGTTAACCTCCTGTTGGAGAA	0.532000													6	20					0	0	0.000157383	0	0
FGD5	152273	broad.mit.edu	37	3	14862002	14862002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:14862002G>A	ENST00000285046.5	+	1	1534	c.1424G>A	c.(1423-1425)aGg>aAg	p.R475K	FGD5_ENST00000543601.1_Missense_Mutation_p.R234K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	475					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCGCGGACAGGAAGAACACC	0.627000													11	52					0	0	0.000673444	0	0
CNTN4	152330	broad.mit.edu	37	3	3081846	3081846	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:3081846G>A	ENST00000397461.1	+	19	2673	c.2289G>A	c.(2287-2289)agG>agA	p.R763R	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.R763R|CNTN4_ENST00000358480.3_Silent_p.R544R|CNTN4_ENST00000418658.1_Silent_p.R763R|CNTN4_ENST00000448906.2_Silent_p.R435R|CNTN4_ENST00000397459.2_Silent_p.R435R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	763	Fibronectin type-III 2.				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)		ACGTGTTCAGGAATGAGAGCG	0.522000													16	82					0	0	0.000566183	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221565	142221565	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:142221565C>T	ENST00000024061.3	-	8	2680	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000517878.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCAGGCCCCCCGGACCAGCCT	0.647000													10	77					0	0	0.000442599	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437170	142437170	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:142437170G>A	ENST00000520105.1	+	4	1272		c.e4+1		PTP4A3_ENST00000349124.1_Splice_Site|PTP4A3_ENST00000329397.1_Splice_Site|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Splice_Site			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3							early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GCCTGGGCCGGTGAGTGTCGG	0.652000													8	76					0	0	0.000274275	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466040	78466040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:78466040C>T	ENST00000258873.4	-	13	2189	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	ACSBG1_ENST00000560817.1_Missense_Mutation_p.E420K|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E420K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	662					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATCCCCTCTTCGATGGCCTGG	0.582000													9	36					0	0	0.000274275	0	0
LIM2	3982	broad.mit.edu	37	19	51883823	51883823	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:51883823C>T	ENST00000221973.3	-	4	564	c.522G>A	c.(520-522)ggG>ggA	p.G174G	LIM2_ENST00000596399.1_Silent_p.G132G	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	132					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AGCGCCAGTCCCCAAAGCGGC	0.632000													16	76					0	0	0.000132079	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480627	140480627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:140480627G>A	ENST00000231130.2	+	1	394	c.394G>A	c.(394-396)Gta>Ata	p.V132I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		132	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTCTCCGGTATTCTTTGA	0.393000													18	73					0	0	0.000958276	0	0
RFX7	64864	broad.mit.edu	37	15	56386014	56386014	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:56386014G>A	ENST00000423270.1	-	9	3911	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S	RFX7_ENST00000422057.1_Silent_p.S1207S|RFX7_ENST00000559447.2_Silent_p.S1207S|RFX7_ENST00000317318.6_Silent_p.S1304S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1207					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAAGTGCTGGAATCGATCA	0.418000													18	57					0	0	0.00074312	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486444	45486444	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:45486444G>A	ENST00000359600.5	-	12	2671	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	822							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAATTGTTCGGAGTCTCAAAG	0.423000													30	156					0	0	0.000814825	0	0
HOXA4	3201	broad.mit.edu	37	7	27169083	27169083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:27169083G>A	ENST00000360046.5	-	2	789	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.R242W|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGGCGCCGCCGGGTCAGGTAT	0.572000													9	62					0	0	0.00010058	0	0
ANK2	287	broad.mit.edu	37	4	114279286	114279286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:114279286C>T	ENST00000357077.4	+	38	9565	c.9512C>T	c.(9511-9513)tCa>tTa	p.S3171L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3138L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3138					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTCAGAATCAAAAGAAACA	0.478000													7	33					0	0	8.12818e-05	0	0
MMD2	221938	broad.mit.edu	37	7	4947052	4947052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:4947052G>A	ENST00000404774.3	-	7	982	c.788C>T	c.(787-789)aCc>aTc	p.T263I	MMD2_ENST00000401401.3_Missense_Mutation_p.T239I|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	263						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GGTCTGCAGGGTGCTGGGCAG	0.542000													16	70					0	0	0.000175454	0	0
IPO4	79711	broad.mit.edu	37	14	24652823	24652823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:24652823G>A	ENST00000354464.6	-	20	2212	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	679					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCCCCCACGGCAGCACAGGT	0.577000													7	18					0	0	0.000157383	0	0
SLC10A1	6554	broad.mit.edu	37	14	70245170	70245170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:70245170G>A	ENST00000216540.4	-	4	956	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	275					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ACTTCAGGTGGAAAGGCCACA	0.493000													15	59					0	0	0.000219431	0	0
SRSF11	9295	broad.mit.edu	37	1	70700397	70700397	+	Missense_Mutation	SNP	G	G	C	rs140006011		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:70700397G>C	ENST00000370950.3	+	5	548	c.466G>C	c.(466-468)Gct>Cct	p.A156P	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.A96P|SRSF11_ENST00000370951.1_Missense_Mutation_p.A156P|SRSF11_ENST00000405432.1_Missense_Mutation_p.A156P			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	156					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						TGTTCCACTGGCTGCTTTGGG	0.403000													15	101					0	0	0.00074312	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802785	185802785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:185802785C>T	ENST00000302277.6	+	4	3256	c.2662C>T	c.(2662-2664)Cct>Tct	p.P888S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	888						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAATCTCCTTCCTTCTGAAAC	0.393000													10	55					0	0	0.000442599	0	0
FOXL1	2300	broad.mit.edu	37	16	86612345	86612345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:86612345G>A	ENST00000320241.3	+	1	231	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	6					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCACCTCTTCGATCCCCGGCT	0.726000													5	45					0	0	0.000157383	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354341	17354341	+	RNA	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:17354341C>T	ENST00000511821.1	+	0	200				FTH1P10_ENST00000401830.3_RNA																							TCAGCATGTTCCCTCTCCTCA	0.483000													21	52					0	0	0.000175454	0	0
PIGV	55650	broad.mit.edu	37	1	27120878	27120878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:27120878C>T	ENST00000374145.1	+	3	1035	c.353C>T	c.(352-354)tCg>tTg	p.S118L	PIGV_ENST00000078527.4_Missense_Mutation_p.S118L|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	118					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTGCTGATTTCGGTAGCATCA	0.507000													12	40					0	0	0.000978159	0	0
AK5	26289	broad.mit.edu	37	1	77806157	77806157	+	Silent	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:77806157C>T	ENST00000344720.5	+	6	1743	c.717C>T	c.(715-717)gaC>gaT	p.D239D	AK5_ENST00000354567.2_Silent_p.D265D	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	265					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCCGACCAGACGACAATGTAA	0.458000													11	72					0	0	0.000978159	0	0
CHD5	26038	broad.mit.edu	37	1	6206302	6206302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:6206302C>T	ENST00000262450.3	-	11	1871	c.1772G>A	c.(1771-1773)tGg>tAg	p.W591*	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATCATCATCCACTCTGGCTT	0.577000													13	58					0	0	0.000566183	0	0
MAGI3	260425	broad.mit.edu	37	1	114189223	114189223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:114189223C>T	ENST00000369615.1	+	12	2176	c.2114C>T	c.(2113-2115)tCt>tTt	p.S705F	MAGI3_ENST00000369617.4_Missense_Mutation_p.S730F|MAGI3_ENST00000369611.4_Missense_Mutation_p.S705F|MAGI3_ENST00000307546.9_Missense_Mutation_p.S705F	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	730					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGATCCTTCTGAGGTCTAC	0.378000													14	60					0	0	0.000422831	0	0
OR51B5	282763	broad.mit.edu	37	11	5363896	5363896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:5363896G>A	ENST00000300773.2	-	1	913	c.859C>T	c.(859-861)Cct>Tct	p.P287S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTTATAGGATTCATTAGT	0.393000													5	49					0	0	3.59834e-05	0	0
PTPRB	5787	broad.mit.edu	37	12	70954596	70954596	+	Silent	SNP	G	G	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:70954596G>A	ENST00000334414.6	-	17	4331	c.4287C>T	c.(4285-4287)ccC>ccT	p.P1429P	PTPRB_ENST00000261266.5_Silent_p.P1211P|PTPRB_ENST00000550857.1_Silent_p.P1121P|PTPRB_ENST00000550358.1_Silent_p.P1341P|PTPRB_ENST00000551525.1_Silent_p.P1428P|PTPRB_ENST00000538708.1_Silent_p.P1121P|PTPRB_ENST00000451516.2_Silent_p.P1121P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1211	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTGCCATTGGGATTATAGA	0.502000													6	35					0	0	8.12818e-05	0	0
LOC442028	442028	broad.mit.edu	37	2	95558118	95558121	+	RNA	DEL	TACA	TACA	-			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:95558118_95558121delTACA	ENST00000568768.1	-	0	476																											GTTCCCTACCTACATACTTAGAGC	0.304													3	3	---	---	---	---					
TMEM161B-AS1	100505894	broad.mit.edu	37	5	87677834	87677834	+	RNA	DEL	T	T	-			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:87677834delT	ENST00000501715.2	+	0	577				TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000504922.1_RNA																							GGTTGATCCATTTTCTAAGAA	0.433													2	4	---	---	---	---