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
DHRS7C	201140	broad.mit.edu	37	17	9684878	9684878	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:9684878C>A	ENST00000330255.4	-	2	200	c.188G>T	c.(187-189)aGg>aTg	p.R63M	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R63M	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	63						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCACCAGCCTTGCCCCACC	0.567000													11	26					6.40141e-05	6.96728e-05	1	1	0
KIF16B	55614	broad.mit.edu	37	20	16486741	16486741	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr20:16486741G>A	ENST00000354981.2	-	8	951	c.794C>T	c.(793-795)aCc>aTc	p.T265I	KIF16B_ENST00000408042.1_Missense_Mutation_p.T265I|KIF16B_ENST00000355755.3_Missense_Mutation_p.T265I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	265	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTAACCCCGGTGGCTCCGGT	0.517000													41	86					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32789651	32789651	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:32789651T>A	ENST00000326958.1	+	1	707	c.144T>A	c.(142-144)caT>caA	p.H48Q	NPR3_ENST00000265074.8_3'UTR																							GAGAAATGCATGGGAAAAGAA	0.388000													34	101					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111879111	111879111	+	Splice_Site	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:111879111A>G	ENST00000277900.8	+	7	1225	c.861_splice	c.e7+1	p.K287_splice	ADD3_ENST00000360162.3_Splice_Site_p.K287_splice|ADD3_ENST00000356080.4_Splice_Site_p.K287_splice	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	287						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAAGTTGTAAGGTATGTAGT	0.433000													30	96					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606803	55606803	+	Silent	SNP	T	T	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:55606803T>C	ENST00000378396.1	+	1	576	c.576T>C	c.(574-576)ccT>ccC	p.P192P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCTTACCCTGACTCTTATC	0.388000													24	47					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343171	118343171	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:118343171G>T	ENST00000534358.1	+	3	1320	c.1297G>T	c.(1297-1299)Gat>Tat	p.D433Y	KMT2A_ENST00000389506.5_Missense_Mutation_p.D433Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.D433Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAGGATGAGGATTATGACCC	0.453000													19	110					1.33834e-09	1.6175e-09	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140782699	140782699	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:140782699G>T	ENST00000573521.1	+	1	180	c.180G>T	c.(178-180)gcG>gcT	p.A60A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGCGGAGCGCCGAG	0.612000													31	95					1.61788e-16	2.18303e-16	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33768315	33768315	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:33768315T>A	ENST00000285013.6	-	6	2268	c.1993A>T	c.(1993-1995)Atc>Ttc	p.I665F	SLFN13_ENST00000542635.1_Missense_Mutation_p.I665F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I347F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I665F|SLFN13_ENST00000526861.1_Missense_Mutation_p.I665F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I347F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	665						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCAATGACGATGTGTTGAATG	0.403000													44	91					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044971	55044971	+	Silent	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:55044971C>T	ENST00000335056.3	+	3	129	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAAGTTCTCCCTGTCAGCCTG	0.557000													26	48					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487317	131487317	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:131487317G>A	ENST00000309926.4	+	1	675	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	198						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GAGGAGCAAGGAGCTTCATAC	0.582000													32	41					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736202	30736202	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:30736202G>A	ENST00000262518.4	+	25	5842	c.5457G>A	c.(5455-5457)caG>caA	p.Q1819Q	SRCAP_ENST00000395059.2_Silent_p.Q1757Q|SRCAP_ENST00000344771.4_Silent_p.Q1661Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1819	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cagcTTCCCAGGCATCTTCCC	0.627000													14	85					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937685	33937685	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:33937685G>T	ENST00000330120.3	+	1	1195	c.840G>T	c.(838-840)ctG>ctT	p.L280L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	280						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGCTGCCGCTGGGCATCATTA	0.677000													3	15					6.4e-05	6.96728e-05	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56899385	56899385	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:56899385C>T	ENST00000438926.2	+	1	267	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	SLC12A3_ENST00000566786.1_Missense_Mutation_p.R80W|SLC12A3_ENST00000563236.1_Missense_Mutation_p.R80W|SLC12A3_ENST00000262502.5_Missense_Mutation_p.R80W	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	80					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)	TGGTGAGCCCCGGAAGGTCCG	0.592000													6	78					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169503080	169503080	+	Silent	SNP	C	C	A	rs142830212		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:169503080C>A	ENST00000256935.8	+	47	4938	c.4858C>A	c.(4858-4860)Cga>Aga	p.R1620R	DOCK2_ENST00000520908.1_Silent_p.R1112R|DOCK2_ENST00000540750.1_Silent_p.R681R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1620	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTACGGTGTCCGAGAGATGGT	0.537000													19	50					8.28177e-16	1.08767e-15	1	1	0
DNM1	1759	broad.mit.edu	37	9	130984810	130984810	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:130984810G>A	ENST00000341179.7	+	8	1155	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	DNM1_ENST00000372923.3_Missense_Mutation_p.E355K|DNM1_ENST00000486160.1_Missense_Mutation_p.E355K|DNM1_ENST00000393594.3_Missense_Mutation_p.E355K|DNM1_ENST00000475805.1_Missense_Mutation_p.E355K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	355					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CGACACCTACGAACTGTCAGG	0.597000													26	55					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868724	31868724	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr6:31868724C>A	ENST00000375527.2	-	2	534	c.359G>T	c.(358-360)cGg>cTg	p.R120L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GAGGGCATTCCGGCATTTCTC	0.567000													15	38					1.49906e-05	1.65907e-05	1	1	0
ACTL8	81569	broad.mit.edu	37	1	18152796	18152796	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:18152796G>A	ENST00000375406.1	+	3	1099	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	295						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GGTCTCCCACGTGATGGCCTG	0.657000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069675	114069675	+	Missense_Mutation	SNP	G	G	C	rs149352178	byFrequency	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:114069675G>C	ENST00000462705.1	-	11	1852	c.1031C>G	c.(1030-1032)gCt>gGt	p.A344G	ZBTB20_ENST00000464560.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A417G|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A344G|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A344G|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A344G	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCACCCTCAGCGGGGGCTTC	0.622000													5	99					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104120846	104120846	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:104120846G>A	ENST00000369983.3	+	13	1717	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	486					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGTTTGAGAGCATGCGAGAG	0.468000													36	104					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123016222	123016222	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:123016222A>G	ENST00000462833.1	-	16	4120	c.2908T>C	c.(2908-2910)Ttc>Ctc	p.F970L	ADCY5_ENST00000309879.5_Missense_Mutation_p.F620L|ADCY5_ENST00000491190.1_Missense_Mutation_p.F603L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	970					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCGTTGTTGAAGAAGTCTCTG	0.622000													41	114					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475702	75475702	+	RNA	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:75475702C>A	ENST00000459803.1	-	0	827					NR_024241.1																						AGCCAGCCTCCGCAGGATCCC	0.572000													16	31					3.41278e-10	4.20199e-10	1	1	0
GNLY	10578	broad.mit.edu	37	2	85924776	85924776	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:85924776C>T	ENST00000409696.3	+	5	640	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	GNLY_ENST00000524600.1_Missense_Mutation_p.L162F|GNLY_ENST00000263863.4_Missense_Mutation_p.L135F	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	135	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CTGTGAGGACCTCAGGTTGTG	0.542000													6	38					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100276115	100276115	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chrX:100276115G>A	ENST00000338687.7	-	9	1711	c.906C>T	c.(904-906)atC>atT	p.I302I	TRMT2B_ENST00000372931.5_Silent_p.I347I|TRMT2B_ENST00000372935.1_Silent_p.I347I|TRMT2B_ENST00000372936.3_Silent_p.I347I|TRMT2B_ENST00000372939.1_Silent_p.I302I|TRMT2B_ENST00000545398.1_Silent_p.I347I			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	347							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTCAAGAAGGATGGTGTCAG	0.557000													14	16					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132496110	132496110	+	Silent	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr12:132496110A>G	ENST00000333577.4	+	17	3589	c.3480A>G	c.(3478-3480)aaA>aaG	p.K1160K	EP400_ENST00000330386.6_Silent_p.K1124K|EP400_ENST00000332482.4_Silent_p.K1087K|EP400_ENST00000389561.2_Silent_p.K1124K|EP400_ENST00000389562.2_Silent_p.K1123K			Q96L91	EP400_HUMAN	E1A binding protein p400	1160	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGAATTGAAACGTTGGTGTC	0.383000													11	43					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364792	29364792	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr6:29364792G>T	ENST00000383555.2	+	1	377	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CCACTCCCTGGGCAGCACGGA	0.493000													7	65					5.35267e-07	6.02557e-07	1	1	0
PCLO	27445	broad.mit.edu	37	7	82584422	82584422	+	Silent	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:82584422C>T	ENST00000423517.2	-	5	6184	c.5847G>A	c.(5845-5847)ggG>ggA	p.G1949G	PCLO_ENST00000333891.8_Silent_p.G1949G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1880					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATTAGCATCCCACCATACA	0.363000													22	45					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48732480	48732480	+	Missense_Mutation	SNP	T	T	C	rs17080319	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:48732480T>C	ENST00000431721.2	-	3	647	c.410A>G	c.(409-411)gAt>gGt	p.D137G	IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.D140G|IP6K2_ENST00000453202.1_Missense_Mutation_p.D82G|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.D82G|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000443964.1_Missense_Mutation_p.D141G|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.D82G	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	168					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ATCTCTCACATCTCCTCGCCA	0.597000													4	38					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65155437	65155437	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:65155437T>A	ENST00000381210.3	-	9	933	c.823A>T	c.(823-825)Aat>Tat	p.N275Y	TECRL_ENST00000507440.1_Missense_Mutation_p.N275Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	275					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTGTGTGATTGGGATGAGAC	0.274000													9	25					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913247	32913247	+	Silent	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:32913247C>T	ENST00000544455.1	+	11	4982	c.4755C>T	c.(4753-4755)atC>atT	p.I1585I	BRCA2_ENST00000380152.3_Silent_p.I1585I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1585					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCATTGAGATCACAGCTGCCC	0.403000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			19	103					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105349507	105349507	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:105349507A>T	ENST00000453495.1	+	8	944	c.716A>T	c.(715-717)cAg>cTg	p.Q239L	CEP170B_ENST00000556508.1_Missense_Mutation_p.Q168L|CEP170B_ENST00000414716.3_Missense_Mutation_p.Q238L|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q168L					centrosomal protein 170B									p.Q238fs*38(1)|p.Q169fs*38(1)									CAGCCGTCGCAGCCCCCCGAG	0.706000													3	7					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78571094	78571094	+	Splice_Site	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr12:78571094G>A	ENST00000397909.2	+	27	5470		c.e27+1		NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTTCAGCGTAAGTTGCTC	0.408000										HNSCC(70;0.22)			6	79					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356450	42356450	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:42356450C>A	ENST00000554171.1	+	5	3054	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	LRFN5_ENST00000298119.4_Missense_Mutation_p.Q208K|LRFN5_ENST00000554120.1_Missense_Mutation_p.Q208K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	208						integral to membrane		p.Q208E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAATAAATTGCAGAAGCTACC	0.428000										HNSCC(30;0.082)			27	31					2.79863e-10	3.46749e-10	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr12:25398281C>T	ENST00000311936.3	-	2	229	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000256078.4_Missense_Mutation_p.G13D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	13					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547591	44547591	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:44547591C>T	ENST00000260649.6	+	10	1947	c.1871C>T	c.(1870-1872)aCc>aTc	p.T624I	SLC3A1_ENST00000409740.3_Missense_Mutation_p.T255I|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.T346I|PREPL_ENST00000541738.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	624					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGGTTAAGTACCAATTCTGCC	0.388000													30	69					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107558439	107558439	+	Silent	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:107558439C>G	ENST00000374736.3	-	39	5671	c.5277G>C	c.(5275-5277)gtG>gtC	p.V1759V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1759					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGATCTTGAACACAAAGGAGG	0.527000													28	42					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026128	57026128	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr8:57026128G>T	ENST00000311923.1	-	1	413	c.414C>A	c.(412-414)atC>atA	p.I138I		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	138	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGAACTCCATGATGATGGTCC	0.637000													6	109					0.217242	0.218351	1	1	0
ZNF160	90338	broad.mit.edu	37	19	53572311	53572311	+	Silent	SNP	T	T	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:53572311T>C	ENST00000601421.1	-	3	2244	c.1368A>G	c.(1366-1368)caA>caG	p.Q456Q	ZNF160_ENST00000429604.1_Silent_p.Q492Q|ZNF160_ENST00000418871.1_Silent_p.Q492Q|ZNF160_ENST00000599056.1_Silent_p.Q492Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	492					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTTGTGAATTTTGAGTGAAAA	0.403000													41	83					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33109737	33109737	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:33109737G>T	ENST00000307363.5	-	4	586	c.442C>A	c.(442-444)Cgc>Agc	p.R148S	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Missense_Mutation_p.R196S|GLB1_ENST00000399402.3_Missense_Mutation_p.R118S	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	148			R -> C (in GM1G3).|R -> S (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCGGAGGAGCGGAGAAGAATA	0.483000													15	43					2.5808e-16	3.45862e-16	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55221935	55221935	+	RNA	SNP	G	G	A	rs45588833	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:55221935G>A	ENST00000413439.1	+	0	1462																											CGGGCCCCACGGTGGCCTCAG	0.637000													7	51					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106959818	106959818	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:106959818A>G	ENST00000369701.3	+	15	2298	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	691						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACAAATCTATCTTCAGCCG	0.532000													38	113					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73804904	73804904	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:73804904C>A	ENST00000334126.7	-	18	3527	c.3301G>T	c.(3301-3303)Ggc>Tgc	p.G1101C	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1101C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1101						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGCACGAGGCCCTGTGCAGAG	0.507000													21	31					4.35082e-09	5.16332e-09	1	1	0
LCMT2	9836	broad.mit.edu	37	15	43622121	43622121	+	Silent	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr15:43622121C>G	ENST00000305641.5	-	1	682	c.567G>C	c.(565-567)gcG>gcC	p.A189A	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	189					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGGTCAGCACCGCCTCGGCCA	0.677000													8	24					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71717190	71717190	+	Silent	SNP	A	A	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:71717190A>C	ENST00000393695.3	-	22	5914	c.5583T>G	c.(5581-5583)ggT>ggG	p.G1861G	NUMA1_ENST00000358965.6_Silent_p.G1847G|NUMA1_ENST00000351960.6_Silent_p.G725G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1861					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AATCGGGAGAACCCAGGCGAG	0.632000			T	RARA	APL								12	59					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100678545	100678545	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:100678545G>A	ENST00000375119.3	-	2	228	c.152C>T	c.(151-153)tCc>tTc	p.S51F	C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	51					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GCTACAAATGGATGGCTGTCT	0.413000													12	50					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364791	29364791	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr6:29364791G>T	ENST00000383555.2	+	1	376	c.315G>T	c.(313-315)ctG>ctT	p.L105L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCACTCCCTGGGCAGCACGG	0.493000													6	64					3.32936e-07	3.79124e-07	1	1	0
UNC50	25972	broad.mit.edu	37	2	99232733	99232733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:99232733T>A	ENST00000409975.1	+	3	1646	c.516T>A	c.(514-516)taT>taA	p.Y172*	UNC50_ENST00000409347.1_Nonsense_Mutation_p.Y172*|UNC50_ENST00000357765.2_Nonsense_Mutation_p.Y155*			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	155					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AATGGGGCTATGCTTTTGATG	0.338000													47	69					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530738	140530738	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:140530738G>T	ENST00000231136.1	+	1	900	c.900G>T	c.(898-900)cgG>cgT	p.R300R	PCDHB6_ENST00000543635.1_Silent_p.R164R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAAATTCGGCTGAGAAAGG	0.443000													36	75					1.03484e-13	1.33244e-13	1	1	0
ANKRD36	375248	broad.mit.edu	37	2	97868070	97868070	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:97868070G>A	ENST00000420699.2	+	48	3143	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	ANKRD36_ENST00000461153.2_Missense_Mutation_p.E967K	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	967										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACAAGTGACGAGGAAGATTC	0.338000													8	16					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317534	1317534	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chrX:1317534G>T	ENST00000381567.3	-	5	530	c.531C>A	c.(529-531)gcC>gcA	p.A177A	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	177	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AACACTTCTCGGCATCCAAGC	0.493000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								12	31					2.80697e-09	3.35136e-09	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263233	248263233	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:248263233C>T	ENST00000366478.2	+	3	893	c.556C>T	c.(556-558)Ctt>Ttt	p.L186F	OR2L13_ENST00000358120.2_Missense_Mutation_p.L186F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CATGTTGCTTCTTGCCTGTAC	0.458000													12	203					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004191	65004191	+	RNA	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:65004191G>A	ENST00000525437.1	+	0	1441							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GTCCACGCCCGCCTCGGGGGC	0.662000													9	31					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723691	58723691	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:58723691G>A	ENST00000326804.4	+	9	1600	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	ZNF274_ENST00000424679.2_Missense_Mutation_p.V276M|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.V349M	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	382					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCAAGACACAGTGTTGAAGCA	0.498000													17	28					0	0	1	0	0
FABP4	2167	broad.mit.edu	37	8	82391731	82391731	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr8:82391731C>A	ENST00000256104.4	-	3	361	c.266G>T	c.(265-267)gGg>gTg	p.G89V	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	89					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CAGGACACCCCCATCTAAGGT	0.408000													166	78					6.68841e-61	9.54795e-61	1	1	0
ZNF777	27153	broad.mit.edu	37	7	149152397	149152397	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:149152397G>A	ENST00000247930.4	-	2	1040	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCCCCAACACGACCCACTTGC	0.562000													37	76					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745933	120745933	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:120745933C>G	ENST00000527524.2	+	11	1432	c.1145C>G	c.(1144-1146)aCa>aGa	p.T382R	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.T382R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	382					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTACAGTTCACAAGGAATGGT	0.493000													7	10					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156227	146156227	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr8:146156227C>A	ENST00000276816.4	-	4	2132	c.1946G>T	c.(1945-1947)aGg>aTg	p.R649M	ZNF16_ENST00000394909.2_Missense_Mutation_p.R649M	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGTGTGAATCCTCTGGTGCTG	0.527000													15	332					6.31663e-08	7.31986e-08	1	1	0
IRX1	79192	broad.mit.edu	37	5	3599910	3599910	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:3599910G>T	ENST00000302006.3	+	2	900	c.848G>T	c.(847-849)gGc>gTc	p.G283V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	283						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCGCCCTTGGGCCTGGCAAAG	0.741000													4	5					0.150653	0.152199	1	1	0
IQUB	154865	broad.mit.edu	37	7	123104950	123104950	+	Silent	SNP	C	C	T	rs138866231		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:123104950C>T	ENST00000466202.1	-	10	2271	c.1695G>A	c.(1693-1695)gcG>gcA	p.A565A	IQUB_ENST00000434450.1_Silent_p.A565A|IQUB_ENST00000324698.6_Silent_p.A565A			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	565								p.A565A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAAAGAGTGTCGCAATTCTTT	0.328000													7	125					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62394784	62394784	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:62394784T>A	ENST00000346178.4	-	19	2303	c.2288A>T	c.(2287-2289)aAt>aTt	p.N763I	GANAB_ENST00000356638.3_Missense_Mutation_p.N741I|GANAB_ENST00000540933.1_Missense_Mutation_p.N644I|GANAB_ENST00000534779.1_Missense_Mutation_p.N649I	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	741					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						ATCATCTATATTGAAGGTAGT	0.478000													9	57					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588533	40588533	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr15:40588533G>T	ENST00000260402.3	-	16	1909	c.1660C>A	c.(1660-1662)Cag>Aag	p.Q554K	PLCB2_ENST00000456256.2_Missense_Mutation_p.Q554K|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q550K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	554	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTGGTGGGCTGGATGTAATTG	0.537000													4	13					1.23904e-05	1.37904e-05	1	1	0
GPATCH8	23131	broad.mit.edu	37	17	42501731	42501731	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:42501731G>A	ENST00000434000.1	-	7	526	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	GPATCH8_ENST00000591680.1_Missense_Mutation_p.H160Y			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	160	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTGTGTGCATGATCATAGGAG	0.378000													23	55					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338602	13338602	+	RNA	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:13338602G>T	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						CCTTCACTGTGTGTGCTGACC	0.468000													21	48					3.62473e-10	4.43523e-10	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44932524	44932524	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:44932524A>T	ENST00000291187.4	-	6	2736	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.L811Q|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTGGTTCCGCAGACCTGAGGT	0.493000													20	52					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996831	34996831	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:34996831G>A	ENST00000541010.1	+	2	3793	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	DNAJB5_ENST00000545841.1_Missense_Mutation_p.V261M|DNAJB5_ENST00000335998.3_Missense_Mutation_p.V295M|DNAJB5_ENST00000454002.2_Missense_Mutation_p.V333M|DNAJB5_ENST00000453597.3_Missense_Mutation_p.V375M|DNAJB5_ENST00000312316.5_Missense_Mutation_p.V261M			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	261					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGCACCAACGTGCTCTACAG	0.592000													3	31					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51467451	51467451	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:51467451C>T	ENST00000298355.3	-	6	2535	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	TRIM9_ENST00000360392.4_Missense_Mutation_p.A472T|TRIM9_ENST00000338969.5_Missense_Mutation_p.A468T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	472	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TATCCATCGGCGGGCACCGTG	0.542000													6	37					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210761257	210761257	+	Silent	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:210761257A>T	ENST00000367010.1	+	10	1286	c.1059A>T	c.(1057-1059)ccA>ccT	p.P353P	HHAT_ENST00000545781.1_Silent_p.P290P|HHAT_ENST00000545154.1_Silent_p.P354P|HHAT_ENST00000537898.1_Silent_p.P288P|HHAT_ENST00000391905.3_Silent_p.P353P|HHAT_ENST00000367009.1_Silent_p.P43P|HHAT_ENST00000413764.2_Silent_p.P353P|HHAT_ENST00000308852.6_Silent_p.P308P|HHAT_ENST00000261458.3_Silent_p.P353P|HHAT_ENST00000541565.1_Silent_p.P216P	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	353					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTACATTCCAGTGGGCGGGT	0.537000													15	65					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317535	1317535	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chrX:1317535G>T	ENST00000381567.3	-	5	529	c.530C>A	c.(529-531)gCc>gAc	p.A177D	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	177	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACACTTCTCGGCATCCAAGCC	0.498000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								12	29					2.80697e-09	3.35136e-09	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363054	22363054	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:22363054A>T	ENST00000397121.2	-	3	1782	c.1465T>A	c.(1465-1467)Ttc>Atc	p.F489I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGATTGAGAACGTACTAAAG	0.408000													33	44					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51854787	51854787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:51854787C>T	ENST00000322475.8	+	4	1171	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	FAM124A_ENST00000280057.6_Nonsense_Mutation_p.R382*	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	346										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ATTTGCCGGACGAGCCAACAG	0.642000													5	44					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440232	99440232	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr8:99440232G>A	ENST00000287042.4	+	2	375	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KCNS2_ENST00000521839.1_Missense_Mutation_p.V9M	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCTGTGGGACGTGTCGGAGGC	0.716000													3	7					0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102746902	102746902	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:102746902G>A	ENST00000318325.2	-	2	236	c.183C>T	c.(181-183)gtC>gtT	p.V61V	MRPL43_ENST00000318364.8_Silent_p.V61V|MRPL43_ENST00000299179.5_Silent_p.V61V|MRPL43_ENST00000370236.1_Silent_p.V61V|MRPL43_ENST00000342071.1_Silent_p.V61V|MRPL43_ENST00000477279.1_Intron|MRPL43_ENST00000370234.4_Silent_p.V61V|MRPL43_ENST00000370241.3_Silent_p.V61V|MRPL43_ENST00000370242.4_Silent_p.V61V|MRPL43_ENST00000493646.1_5'UTR	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	61					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CATATATTACGACCCCTGGAT	0.647000													13	48					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250881	190250881	+	Splice_Site	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:190250881C>A	ENST00000367462.3	-	3	468		c.e3-1		RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN								extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCCAAACTCCCTGAAAAGCAA	0.388000													11	39					3.86212e-05	4.25049e-05	1	1	0
PRCP	5547	broad.mit.edu	37	11	82550437	82550437	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:82550437C>A	ENST00000313010.3	-	7	1146	c.952G>T	c.(952-954)Gta>Tta	p.V318L	PRCP_ENST00000393399.2_Missense_Mutation_p.V339L|PRCP_ENST00000535099.1_Missense_Mutation_p.V213L|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	318	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAATCAGATACATTGGGATTT	0.348000													23	44					9.86323e-18	1.34934e-17	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102901026	102901026	+	Silent	SNP	G	G	A	rs145129878		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:102901026G>A	ENST00000359520.7	+	9	2098	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	TECPR2_ENST00000558678.1_Silent_p.A624A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	624							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCCTGGGGCGCATGATGGGG	0.567000													4	34					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428362	3428362	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:3428362G>A	ENST00000324266.5	+	5	1540	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E449K	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	449							binding										GATGGAATTTGAACCCTTCGG	0.433000													52	156					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:56539799C>T	ENST00000390649.3	+	7	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502000													7	158					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676204	11676204	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:11676204T>A	ENST00000423059.3	-	2	826	c.575A>T	c.(574-576)cAg>cTg	p.Q192L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	192						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAATCTTGCTGGCAAGGAAT	0.577000										HNSCC(18;0.044)			8	43					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074058	158074058	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:158074058G>T	ENST00000264428.4	+	9	1363	c.1093G>T	c.(1093-1095)Gcc>Tcc	p.A365S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.A365S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	365					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGCTGAAAAAGCCAGAATTGC	0.448000													4	57					0.150653	0.152199	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074337	9074337	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:9074337C>T	ENST00000397910.4	-	3	13312	c.13109G>A	c.(13108-13110)aGc>aAc	p.S4370N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4372	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						GGGGTTGGTGCTCACATCTGT	0.473000													23	38					0	0	1	0	0
MRPL36	64979	broad.mit.edu	37	5	1798920	1798920	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:1798920G>C	ENST00000508987.1	-	2	266	c.130C>G	c.(130-132)Ccc>Gcc	p.P44A	MRPL36_ENST00000505059.2_Missense_Mutation_p.P44A|MRPL36_ENST00000382647.7_Missense_Mutation_p.P44A|MRPL36_ENST00000505818.1_Missense_Mutation_p.P44A			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	44					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GCTGCCCCGGGTTCCACAGCC	0.587000													4	64					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005244	74005244	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:74005244A>T	ENST00000476977.1	+	24	4180	c.2489A>T	c.(2488-2490)gAt>gTt	p.D830V	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.D845V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.D830V|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.D862V			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	845						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGTCTGCCTGATGACATCCCC	0.607000													25	52					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850763	216850763	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:216850763G>C	ENST00000391890.3	-	4	575	c.58C>G	c.(58-60)Cct>Gct	p.P20A	ESRRG_ENST00000361525.3_Missense_Mutation_p.P20A|ESRRG_ENST00000360012.3_Missense_Mutation_p.P20A|ESRRG_ENST00000463665.1_Missense_Mutation_p.P20A|ESRRG_ENST00000366937.1_Missense_Mutation_p.P48A|ESRRG_ENST00000366940.2_Missense_Mutation_p.P20A|ESRRG_ENST00000487276.1_Missense_Mutation_p.P20A|ESRRG_ENST00000493748.1_Missense_Mutation_p.P20A|ESRRG_ENST00000493603.1_Missense_Mutation_p.P20A|ESRRG_ENST00000361395.2_Missense_Mutation_p.P20A|ESRRG_ENST00000366938.2_Missense_Mutation_p.P20A|ESRRG_ENST00000408911.3_Missense_Mutation_p.P43A|ESRRG_ENST00000359162.2_Missense_Mutation_p.P20A	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	43					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GGGCTGGAAGGTTCCGTCTTG	0.522000													31	31					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35173418	35173418	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr20:35173418A>T	ENST00000279022.2	+	2	235	c.131A>T	c.(130-132)aAc>aTc	p.N44I	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.N44I	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	44	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATTGACCAGAACCGTGATGGC	0.567000													4	62					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424663	123424663	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr12:123424663G>A	ENST00000542678.1	-	9	4576	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	ABCB9_ENST00000442028.2_Missense_Mutation_p.R580C|ABCB9_ENST00000442833.2_Missense_Mutation_p.R580C|ABCB9_ENST00000346530.5_Missense_Mutation_p.R537C|ABCB9_ENST00000344275.7_Missense_Mutation_p.R580C|ABCB9_ENST00000540285.1_Missense_Mutation_p.R517C|ABCB9_ENST00000392439.3_Missense_Mutation_p.R580C|ABCB9_ENST00000280560.8_Missense_Mutation_p.R580C			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	580	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CATACCACACGGTGCAAGTAC	0.592000													6	5					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79525509	79525509	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:79525509G>C	ENST00000264908.6	+	12	1247	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	ANXA3_ENST00000503570.2_Missense_Mutation_p.E251Q|ANXA3_ENST00000512884.1_Missense_Mutation_p.E251Q	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	290					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATTCGAACAGAGTTCAAGAA	0.373000													6	86					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127017243	127017243	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:127017243C>T	ENST00000393313.1	-	4	889	c.298G>A	c.(298-300)Gac>Aac	p.D100N	ZNF800_ENST00000393312.1_Missense_Mutation_p.D100N|ZNF800_ENST00000265827.3_Missense_Mutation_p.D100N			Q2TB10	ZN800_HUMAN	zinc finger protein 800	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AACTTACTGTCATCCATCTGG	0.318000													29	63					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587400	55587400	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:55587400G>A	ENST00000333976.4	+	1	315	c.295G>A	c.(295-297)Gta>Ata	p.V99I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTAGGATGCGTAGTACAATT	0.428000													46	160					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2591893	2591893	+	Silent	SNP	C	C	T	rs139042529	byFrequency	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:2591893C>T	ENST00000155840.5	+	3	621	c.513C>T	c.(511-513)taC>taT	p.Y171Y	KCNQ1_ENST00000335475.5_Silent_p.Y44Y	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	171					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGACGGAGTACGTGGTCCGCC	0.647000													3	31					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49350801	49350801	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:49350801G>A	ENST00000225298.7	+	5	758	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	234					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTTCCAAGAGGAATCTTGAAG	0.403000													8	88					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431150	135431150	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chrX:135431150C>T	ENST00000394143.1	+	6	5576	c.5285C>T	c.(5284-5286)tCc>tTc	p.S1762F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1557F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1557F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1762F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1699F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1762					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCCATACTTCCTTCAATATT	0.398000													51	39					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687848	60687848	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:60687848G>A	ENST00000335712.6	-	4	2426	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	BCL11A_ENST00000356842.4_Silent_p.P733P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.P699P|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.P699P|BCL11A_ENST00000537768.1_Silent_p.P402P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	733					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.G731fs*>40(1)|p.G731fs*56(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTTTGAGCTGGGCCTGCCCG	0.637000			T	IGH@	B-CLL								32	69					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60601668	60601668	+	Silent	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:60601668A>G	ENST00000326270.9	+	6	607	c.339A>G	c.(337-339)caA>caG	p.Q113Q	TLK2_ENST00000346027.5_Silent_p.Q113Q|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	113					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCTCACCGCAACATTCCTTAT	0.502000													10	28					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599234	29599234	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:29599234G>T	ENST00000431530.3	+	1	487	c.429G>T	c.(427-429)tcG>tcT	p.S143S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	133						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S143S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAAGTCTGTCGAGTTGGAGGA	0.502000													19	51					1.67942e-08	1.96931e-08	1	1	0
FRZB	2487	broad.mit.edu	37	2	183723526	183723526	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:183723526C>T	ENST00000295113.4	-	2	1123	c.514G>A	c.(514-516)Ggg>Agg	p.G172R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	172					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTGCTTGCCCCTCTACAGTTT	0.343000													31	75					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874861	117874861	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:117874861G>A	ENST00000357099.4	+	4	634	c.461G>A	c.(460-462)tGt>tAt	p.C154Y	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.C81Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.C81Y|ANKRD7_ENST00000265224.4_Missense_Mutation_p.C134Y			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	134					male gonad development			p.C154F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TATGCTGTTTGTGGTCAAAGT	0.343000													25	55					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975399	32975399	+	Splice_Site	SNP	A	A	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr12:32975399A>T	ENST00000340811.4	-	8	1948		c.e8+1		PKP2_ENST00000070846.6_Splice_Site	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTCCCAATATACCTCTTTTAC	0.358000													15	39					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387764	1387764	+	Missense_Mutation	SNP	G	G	A	rs9793256	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:1387764G>A	ENST00000378785.2	+	3	1167	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	58							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACCTTGTTTGGGGAAGGATT	0.567000													4	66					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642047	57642047	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:57642047G>T	ENST00000254181.4	+	4	2458	c.2004G>T	c.(2002-2004)aaG>aaT	p.K668N	USP29_ENST00000598197.1_Missense_Mutation_p.K668N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	668					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGAGGGAAGCTGATCAGCA	0.473000													12	44					1.08611e-07	1.25125e-07	1	1	0
LRRC16B	90668	broad.mit.edu	37	14	24532648	24532648	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:24532648C>T	ENST00000342740.5	+	31	3039	c.2885C>T	c.(2884-2886)tCt>tTt	p.S962F	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S58F	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	962										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAAGGTCTATCTGAGCTGCCC	0.607000													20	25					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949873	118949873	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:118949873C>T	ENST00000328252.3	+	2	1225	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	286	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAGCTCCTCCTCCAGGAGAA	0.572000													19	62					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548271	119548271	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:119548271C>G	ENST00000264025.3	-	3	1257	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L	PVRL1_ENST00000340882.2_Missense_Mutation_p.V243L|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.V243L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	243					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCACACTGCACGTTGAGAGTG	0.637000													11	15					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49228132	49228132	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:49228132C>A	ENST00000222145.4	-	9	2417	c.2213G>T	c.(2212-2214)gGg>gTg	p.G738V		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	738	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCATGGCCCCCAGCTCCGC	0.602000													33	58					1.06801e-11	1.34871e-11	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769415	31769415	+	Silent	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:31769415C>A	ENST00000240587.4	-	2	1611	c.1284G>T	c.(1282-1284)acG>acT	p.T428T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	428					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGTGACAGGCGTCTCCACAA	0.572000													28	96					8.24728e-16	1.08767e-15	1	1	0
MDH1B	130752	broad.mit.edu	37	2	207615733	207615733	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:207615733C>A	ENST00000374412.3	-	6	1252	c.977G>T	c.(976-978)aGg>aTg	p.R326M	MDH1B_ENST00000449792.1_Missense_Mutation_p.R228M|MDH1B_ENST00000454776.2_Missense_Mutation_p.R326M|MDH1B_ENST00000392214.2_Intron	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	326					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.R326M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TCTGTACACCCTTGTTTTTCT	0.338000													21	57					6.44725e-10	7.84018e-10	1	1	0
OR1D4	653166	broad.mit.edu	37	17	3143996	3143996	+	RNA	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:3143996C>A	ENST00000531680.1	+	0	27					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		AGAGTGAGAACTCACAGTTCC	0.458000													13	16					3.32936e-07	3.79124e-07	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327756	88327756	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:88327756C>A	ENST00000325089.6	+	2	332	c.113C>A	c.(112-114)gCa>gAa	p.A38E	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	38						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTCGTGTGCAGAAACCATC	0.468000													33	72					1.99505e-19	2.76778e-19	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71717156	71717156	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:71717156A>C	ENST00000393695.3	-	22	5948	c.5617T>G	c.(5617-5619)Ttg>Gtg	p.L1873V	NUMA1_ENST00000358965.6_Missense_Mutation_p.L1859V|NUMA1_ENST00000351960.6_Missense_Mutation_p.L737V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1873					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGCCAGGCAAGCTGAGCAGG	0.632000			T	RARA	APL								14	67					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248930	49248930	+	Missense_Mutation	SNP	C	C	T	rs147003407	byFrequency	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:49248930C>T	ENST00000332955.2	-	2	734	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	63					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCCTGGAAATCCTTCACGGCA	0.562000													5	90					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021562	18021562	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr22:18021562G>A	ENST00000262608.8	+	14	1856	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CECR2_ENST00000400573.4_Missense_Mutation_p.R618Q|CECR2_ENST00000400585.2_Missense_Mutation_p.R477Q	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	660					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGCCCTCTGCGAGGATCAGAT	0.552000													10	24					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119183608	119183608	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:119183608A>G	ENST00000392814.1	-	1	1187	c.458T>C	c.(457-459)tTg>tCg	p.L153S	MCAM_ENST00000264036.4_Missense_Mutation_p.L204S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	204	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AATACTCTGCAAGGTGTACAA	0.552000													16	18					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:57798590C>T	ENST00000302622.3	+	1	189	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTGGACCACCGACTACGGAG	0.478000													38	142					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	21					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958667	12958667	+	Silent	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:12958667T>A	ENST00000251472.4	+	7	609	c.570T>A	c.(568-570)acT>acA	p.T190T	MAST1_ENST00000591495.1_Silent_p.T186T	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	190					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCAGGCCACTGCGCAGATGG	0.721000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101910825	101910825	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:101910825C>A	ENST00000251127.6	-	11	1316	c.1235G>T	c.(1234-1236)aGg>aTg	p.R412M	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R412M	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	412						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTGCCTCCTGAAGTTTTC	0.547000													6	23					0.0215528	0.022114	1	1	0
AHCTF1	25909	broad.mit.edu	37	1	247051502	247051502	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:247051502T>A	ENST00000366508.1	-	19	2543	c.2407A>T	c.(2407-2409)Act>Tct	p.T803S	AHCTF1_ENST00000391829.2_Missense_Mutation_p.T768S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T777S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	768	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCTGCTTCAGTAACGCCGTCT	0.333000													46	51					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931575	116931575	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:116931575G>A	ENST00000537345.1	+	7	1051	c.688G>A	c.(688-690)Gat>Aat	p.D230N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D199N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D230N|ATP1A1_ENST00000491156.1_3'UTR	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	230					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TAGGTCTCCAGATTTCACAAA	0.448000													5	87					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171323168	171323168	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr2:171323168C>A	ENST00000334231.6	+	25	2988	c.2988C>A	c.(2986-2988)agC>agA	p.S996R	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.S987R|MYO3B_ENST00000408978.4_Missense_Mutation_p.S987R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	987	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGACAGTCAGCATCCGCCGCC	0.527000													32	84					4.15321e-07	4.7022e-07	1	1	0
BRCA2	675	broad.mit.edu	37	13	32913546	32913546	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:32913546C>T	ENST00000544455.1	+	11	5281	c.5054C>T	c.(5053-5055)tCa>tTa	p.S1685L	BRCA2_ENST00000380152.3_Missense_Mutation_p.S1685L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1685					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTCAGACTTCATTACTTGAA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	27					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169503079	169503079	+	Silent	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:169503079C>A	ENST00000256935.8	+	47	4937	c.4857C>A	c.(4855-4857)gtC>gtA	p.V1619V	DOCK2_ENST00000520908.1_Silent_p.V1111V|DOCK2_ENST00000540750.1_Silent_p.V680V|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1619	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTACGGTGTCCGAGAGATGG	0.537000													19	51					8.28177e-16	1.08767e-15	1	1	0
BRCA2	675	broad.mit.edu	37	13	32893277	32893277	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:32893277C>G	ENST00000544455.1	+	3	358	c.131C>G	c.(130-132)tCt>tGt	p.S44C	BRCA2_ENST00000380152.3_Missense_Mutation_p.S44C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	44					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCTATAATTCTGAACCTGCA	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	67					0	0	1	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55316317	55316317	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:55316317T>C	ENST00000396284.2	+	3	140	c.140T>C	c.(139-141)cTt>cCt	p.L47P	KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L49P|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L49P|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L49P					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CACGTGACTCTTCGGTGTCAC	0.547000													29	21					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755330	140755330	+	Silent	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:140755330C>A	ENST00000517434.1	+	1	1680	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P560P(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCCGAGATCCTGT	0.657000													80	176					9.25274e-37	1.30199e-36	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740624	140740624	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:140740624G>T	ENST00000522605.1	+	1	922	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGATTTGGATTTTGAGAT	0.388000													17	14					4.7546e-09	5.60872e-09	1	1	0
USH2A	7399	broad.mit.edu	37	1	216496887	216496887	+	Silent	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:216496887G>A	ENST00000366943.2	-	8	1865	c.1479C>T	c.(1477-1479)taC>taT	p.Y493Y	USH2A_ENST00000307340.3_Silent_p.Y493Y|USH2A_ENST00000366942.3_Silent_p.Y493Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	493	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTTGTATAGTACTGCCCAT	0.373000										HNSCC(13;0.011)			54	116					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077649	32077649	+	RNA	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:32077649C>A	ENST00000354689.6	+	0	264				RP11-1166P10.6_ENST00000566806.1_RNA																							GCCTGAGAGCCGAGGACACGG	0.527000													87	542					1.19347e-43	1.69147e-43	1	1	0
TEX264	51368	broad.mit.edu	37	3	51733559	51733559	+	Silent	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:51733559G>T	ENST00000415259.1	+	4	1699	c.618G>T	c.(616-618)gtG>gtT	p.V206V	TEX264_ENST00000395057.1_Silent_p.V206V|TEX264_ENST00000341333.5_Silent_p.V206V|TEX264_ENST00000416589.1_Silent_p.V206V|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.V206V			Q9Y6I9	TX264_HUMAN	testis expressed 264	206						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGGGGCTTGTGGAGGCCATTG	0.582000													21	81					2.39556e-15	3.12534e-15	1	1	0
SLC45A4	57210	broad.mit.edu	37	8	142222496	142222496	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr8:142222496C>G	ENST00000519067.1	-	7	2251	c.1948G>C	c.(1948-1950)Gtg>Ctg	p.V650L	SLC45A4_ENST00000024061.3_Missense_Mutation_p.V650L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V701L|SLC45A4_ENST00000433583.2_Missense_Mutation_p.V643L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	701					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)			AAAGAGCCCACAGAGGCCACC	0.622000													11	203					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13445289	13445289	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:13445289C>A	ENST00000360228.5	-	8	1100	c.1101G>T	c.(1099-1101)agG>agT	p.R367S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R367S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	367					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCACCCGTTCCCTTTCTTTGG	0.483000													23	21					2.21704e-12	2.83608e-12	1	1	0
CDH11	1009	broad.mit.edu	37	16	65038602	65038602	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:65038602C>A	ENST00000394156.3	-	3	624	c.171G>T	c.(169-171)tgG>tgT	p.W57C	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.W57C			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	57	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAACTGGTTCCAGACCCAGC	0.637000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	23					0.000978159	0.00104161	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44594372	44594372	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr20:44594372G>A	ENST00000322927.2	-	7	1097	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R178W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CGAAGCTGCCGGCCTCGGGGC	0.657000													5	41					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223170	56223170	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:56223170G>T	ENST00000332836.2	-	8	2866	c.2839C>A	c.(2839-2841)Ctg>Atg	p.L947M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	947						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACTCACCCCAGCATCTGCAGG	0.557000													8	31					0.00448238	0.00472208	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29632656	29632656	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr20:29632656A>C	ENST00000278882.3	+	8	851	c.471A>C	c.(469-471)aaA>aaC	p.K157N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K157N																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAATAAGTAAAGAAGAGAGTA	0.308000													27	635					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769417	31769417	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:31769417T>G	ENST00000240587.4	-	2	1609	c.1282A>C	c.(1282-1284)Acg>Ccg	p.T428P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	428					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGACAGGCGTCTCCACAATG	0.577000													28	97					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98761945	98761945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:98761945C>A	ENST00000295268.3	-	9	1272	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GTCACTTTTTCTAGGCACCGA	0.358000													33	79					1.22384e-17	1.66273e-17	1	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363341	21363341	+	RNA	SNP	T	T	C	rs2516541	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr22:21363341T>C	ENST00000452284.1	+	0	1008				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TGTGGGGGTATGGCACCAAGT	0.592000													6	48					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22448704	22448704	+	RNA	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:22448704G>A	ENST00000551766.1	-	0	332					NR_027460.1																						GCTTGGCCATGTCGTGTCGGG	0.716000													3	9					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1207146	1207146	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:1207146G>C	ENST00000326873.7	+	1	1407	c.234G>C	c.(232-234)aaG>aaC	p.K78N	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	78	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCGTCAAGATCCTCAAGA	0.612000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	6					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95748044	95748044	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:95748044G>T	ENST00000311106.3	-	7	1097	c.860C>A	c.(859-861)gCt>gAt	p.A287D	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.A240D|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	287	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATATTCAAAAGCCTTCTGGGC	0.468000													23	91					1.66031e-10	2.07013e-10	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102483164	102483164	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:102483164C>T	ENST00000360184.4	+	38	7840	c.7676C>T	c.(7675-7677)aCg>aTg	p.T2559M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2559	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGTGGAGACGCACAAGGTG	0.602000													3	24					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294836	184294836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr3:184294836G>T	ENST00000330394.2	+	5	1671	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	407	Fibronectin type-III 1.			TER -> SEP (in Ref. 1; CAA53021).		integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCTGACGGAGCGCCGGGT	0.642000													26	54					1.1804e-14	1.52986e-14	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77655608	77655608	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr13:77655608T>C	ENST00000407578.2	-	65	11638	c.11372A>G	c.(11371-11373)aAt>aGt	p.N3791S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3753S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3753S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3753	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATAGCGGGCATTGATTCCTTT	0.418000													30	108					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	Translation_Start_Site	SNP	G	G	A	rs2069528	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622000													3	28					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059206	177059206	+	RNA	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr5:177059206C>A	ENST00000515045.1	-	0	722					NR_026921.1																						AGGTGAGGCTCTCAGTGGGCA	0.527000													12	16					2.68362e-12	3.41079e-12	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													4	41					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774437	40774437	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr9:40774437C>A	ENST00000602553.1	-	5	1132	c.838G>T	c.(838-840)Gac>Tac	p.D280Y	ZNF658_ENST00000377626.3_Missense_Mutation_p.D280Y|ZNF658_ENST00000441795.1_Missense_Mutation_p.D278Y			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGGTTTTGTCACAGGATGTC	0.373000													35	132					2.77807e-22	3.88142e-22	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344655	20344655	+	Missense_Mutation	SNP	G	G	A	rs141210026		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:20344655G>A	ENST00000298642.2	+	1	265	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTTCTTTCGCCACCCCAAA	0.418000													69	123					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83984276	83984276	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:83984276C>A	ENST00000418306.2	-	1	47	c.23G>T	c.(22-24)cGg>cTg	p.R8L	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.R8L|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATTCTCAGCCCGAGAAACACT	0.373000													2	4					0.0784	0.0800249	1	1	0
GABPB2	126626	broad.mit.edu	37	1	151079590	151079590	+	Missense_Mutation	SNP	G	G	A	rs145125051		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr1:151079590G>A	ENST00000368918.3	+	7	1145	c.814G>A	c.(814-816)Gtc>Atc	p.V272I	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368917.1_Missense_Mutation_p.V234I|GABPB2_ENST00000368916.1_Missense_Mutation_p.V234I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	272					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGGCCAGAGGGTCATCACCAT	0.443000													5	56					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077211	3077211	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr16:3077211G>A	ENST00000326266.8	+	11	1036	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	THOC6_ENST00000575576.1_Missense_Mutation_p.R223Q|THOC6_ENST00000574549.1_Missense_Mutation_p.R223Q|THOC6_ENST00000253952.9_Missense_Mutation_p.R247Q	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	247					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGGCACCTCCGATCCTCCACA	0.652000													56	44					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352476	44352476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:44352476G>T	ENST00000324461.7	+	7	2020	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E436*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E575*(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAAATGTAAGGAATGTGGGAA	0.418000													10	58					0.000673444	0.000721024	1	1	0
SARS2	54938	broad.mit.edu	37	19	39421207	39421207	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:39421207T>G	ENST00000221431.6	-	1	329	c.170A>C	c.(169-171)cAg>cCg	p.Q57P	SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.Q57P|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.Q57P	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	57					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TATGTCCAGCTGAGGGAGTGC	0.617000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	85					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29550461	29550461	+	Splice_Site	SNP	G	G	C			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:29550461G>C	ENST00000358273.4	+	16	2104		c.e16-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTACTGCAGCTCACAAATG	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	46					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609591	115609591	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:115609591C>T	ENST00000361384.2	-	2	2190	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A425T	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	425	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCTTTAGTTGCCTGATGAACA	0.398000								Other identified genes with known or suspected DNA repair function					15	29					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74556213	74556213	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:74556213C>G	ENST00000340360.6	-	16	2139	c.1808G>C	c.(1807-1809)cGg>cCg	p.R603P	XRRA1_ENST00000321448.8_Missense_Mutation_p.R328P|XRRA1_ENST00000527087.1_Missense_Mutation_p.R516P	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	603					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GAGTTTCCTCCGAGTCCCTTT	0.502000													24	39					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14135362	14135362	+	Silent	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr6:14135362C>T	ENST00000379153.3	+	5	684	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	171					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TACAGAGTATCTTCCCAGATT	0.398000													9	88					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65155440	65155440	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr4:65155440G>A	ENST00000381210.3	-	9	930	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	TECRL_ENST00000507440.1_Missense_Mutation_p.P274S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	274					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGTGATTGGGATGAGACAAC	0.274000													9	24					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41313190	41313190	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr15:41313190C>A	ENST00000361937.3	-	26	3606	c.3182G>T	c.(3181-3183)tGg>tTg	p.W1061L	INO80_ENST00000401393.3_Missense_Mutation_p.W1061L|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1061	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTATTTAGCCAGTCTGCAGC	0.527000													4	43					0.00909568	0.00948068	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55221926	55221926	+	RNA	SNP	G	G	A	rs146908906	by1000genomes	TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:55221926G>A	ENST00000413439.1	+	0	1453																											CGGTGCAGCCGGGCCCCACGG	0.642000													9	51					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119056968	119056968	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr11:119056968C>T	ENST00000531114.1	+	2	646	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L33F|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000322712.4_Intron			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	33					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCACTCGGTCTCCCTCTGAT	0.607000													14	14					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772562	150772563	+	Frame_Shift_Ins	INS	-	-	GGGTGACGGGGCT			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr7:150772562_150772563insGGGTGACGGGGCT	ENST00000485713.1	+	20	4308_4309	c.3268_3269insGGGTGACGGGGCT	c.(3268-3270)ggtfs	p.-1090fs	SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.-1076fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.-1090fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.-1008fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.-1081fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2						bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGGAGCAGCGGGTGACGGGG	0.634													13	125	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs71019446		TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													2	4	---	---	---	---					
SERPINA13P	388007	broad.mit.edu	37	14	95107787	95107787	+	RNA	DEL	C	C	-			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr14:95107787delC	ENST00000469935.1	+	0	392					NR_015340.1																						GCCTGCCCTGCCCTGCCACAA	0.562													5	7	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60366593	60366594	+	RNA	INS	-	-	A			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr17:60366593_60366594insA	ENST00000602493.1	-	0	430																											GTTGAGAGAAGAAAAAAAAAAG	0.272													2	4	---	---	---	---					
KLK8	11202	broad.mit.edu	37	19	51499350	51499350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46S-01A-11D-A24D-08	TCGA-62-A46S-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bb9b619-af7b-4319-8ed9-9c39a752292f	92e1f5e5-322e-4ae9-8a87-3ba555c8d8ad	g.chr19:51499350delC	ENST00000600767.1	-	7	1237	c.748delG	c.(748-750)acfs	p.D250fs	KLK8_ENST00000291726.7_Frame_Shift_Del_p.D250fs|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Frame_Shift_Del_p.D109fs|KLK8_ENST00000391806.2_Frame_Shift_Del_p.D295fs|KLK8_ENST00000320838.5_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	250	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGATCCAGTCCAGGTAGCGG	0.527													41	151	---	---	---	---					
