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
IGKV3-11	28914	broad.mit.edu	37	2	89326946	89326946	+	RNA	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:89326946C>A	ENST00000483158.1	-	0	113																											TGTGTCAACACAATTTCTCCG	0.453000													11	62					7.03913e-09	9.44156e-09	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20435279	20435279	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:20435279C>T	ENST00000331849.4	+	6	956	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	270					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTCTGGAACACGACTGACACT	0.493000													11	93					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870359	237870359	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:237870359A>T	ENST00000366574.2	+	68	10008	c.9691A>T	c.(9691-9693)Atg>Ttg	p.M3231L	RYR2_ENST00000360064.6_Missense_Mutation_p.M3229L|RYR2_ENST00000542537.1_Missense_Mutation_p.M3215L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3231					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACACTCAAATGCCACATGT	0.488000													6	119					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37699444	37699444	+	Splice_Site	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:37699444G>T	ENST00000248901.6	+	8	883		c.e8+1			NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4						regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGCTGCGGGTGAGAGAGGC	0.647000													4	28					0.00024832	0.000275677	1	1	0
PCDHA9	9752	broad.mit.edu	37	5	140229167	140229167	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140229167G>T	ENST00000378122.3	+	1	1811	c.1087G>T	c.(1087-1089)Gca>Tca	p.A363S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A363S	NM_014005.3	NP_054724.1												p.A363T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGAGGACGCACAACTGGG	0.512000													16	86					0.000308642	0.000339766	1	1	0
FAM120A	23196	broad.mit.edu	37	9	96291840	96291840	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:96291840A>G	ENST00000277165.6	+	9	1906	c.1712A>G	c.(1711-1713)tAc>tGc	p.Y571C	FAM120A_ENST00000375389.3_Missense_Mutation_p.Y571C|FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000333936.5_Missense_Mutation_p.Y599C|FAM120A_ENST00000340893.4_Missense_Mutation_p.Y571C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	571						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGTACCCCTACATCTTCCAT	0.547000													12	27					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74943918	74943918	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:74943918T>A	ENST00000569840.2	+	17	2504	c.1930T>A	c.(1930-1932)Tgc>Agc	p.C644S	MGAT5B_ENST00000301618.4_Missense_Mutation_p.C642S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.C653S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	644						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGACTTCTGCAGAGCTCC	0.662000													8	39					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024102	6024102	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:6024102C>T	ENST00000330728.4	-	1	322	c.277G>A	c.(277-279)Gcc>Acc	p.A93T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCCCATGGCCAGGAGGAAG	0.597000													20	43					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27441392	27441392	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:27441392C>A	ENST00000337929.3	+	0	473				IL21R_ENST00000564089.1_De_novo_Start_InFrame|IL21R_ENST00000395755.1_De_novo_Start_InFrame|IL21R_ENST00000395754.4_De_novo_Start_InFrame	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor						natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGGAGTCAGCATGCCGCGTG	0.701000			T	BCL6	NHL								12	22					1.49906e-05	1.77449e-05	1	1	0
WNT1	7471	broad.mit.edu	37	12	49373265	49373265	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:49373265T>C	ENST00000293549.3	+	2	155	c.119T>C	c.(118-120)gTa>gCa	p.V40A		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	40					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ATTGTGAACGTAGCCTCCTCC	0.572000													11	84					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183768	197183768	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:197183768G>C	ENST00000260983.2	-	9	2028	c.1846C>G	c.(1846-1848)Ccc>Gcc	p.P616A	HECW2_ENST00000409111.1_Missense_Mutation_p.P260A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	616					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATCACTGGGTTCTGTTTCA	0.582000													6	38					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472889	17472889	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:17472889C>T	ENST00000400588.1	-	2	459	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	118	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AACATATAGCCCTTCTGAATC	0.502000													49	133					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178491534	178491534	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:178491534C>A	ENST00000319416.2	+	9	773	c.661C>A	c.(661-663)Cac>Aac	p.H221N	TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		ttctgtgggccacgctgtgcc	0.537000													6	3					0.00198382	0.00212436	1	1	0
CAPN3	825	broad.mit.edu	37	15	42680049	42680049	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:42680049G>A	ENST00000397163.3	+	4	816	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CAPN3_ENST00000318023.7_Silent_p.E199E|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.E199E|CAPN3_ENST00000356316.3_Silent_p.E112E|CAPN3_ENST00000349748.3_Silent_p.E199E	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	199	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGCAATGAGTTCTGGAGTG	0.498000													27	59					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022230	107022230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:107022230G>T	ENST00000369701.3	+	26	3812	c.3585G>T	c.(3583-3585)gaG>gaT	p.E1195D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1195						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)		TGGACAAAGAGCTGGACACGC	0.527000													7	28					0.00198382	0.00212436	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13621150	13621150	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr18:13621150C>T	ENST00000361205.4	+	5	884	c.216C>T	c.(214-216)gtC>gtT	p.V72V	LDLRAD4_ENST00000587757.1_Silent_p.V35V|LDLRAD4_ENST00000585931.1_5'UTR|LDLRAD4_ENST00000586765.1_Silent_p.V35V|LDLRAD4_ENST00000399848.3_Silent_p.V72V|LDLRAD4_ENST00000359446.5_Silent_p.V72V	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		TCATCATCGTCGTGGTGGTCA	0.602000													27	69					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70756131	70756131	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:70756131C>A	ENST00000373719.3	+	2	358	c.141C>A	c.(139-141)ctC>ctA	p.L47L	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Silent_p.L37L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	47					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCATGCAGCTCTGGAGACAAG	0.483000													5	30					0.184627	0.185098	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36564371	36564371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:36564371C>T	ENST00000397799.1	-	4	1135	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	COL8A2_ENST00000481785.1_Missense_Mutation_p.R239Q|COL8A2_ENST00000303143.4_Missense_Mutation_p.R304Q			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	304	Triple-helical region.		R -> Q (in FECD1).		angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGGGGGCCCCGGGTCCCTGG	0.697000													3	20					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96428055	96428055	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:96428055T>A	ENST00000359246.4	+	15	2392	c.2025T>A	c.(2023-2025)gaT>gaA	p.D675E	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	675					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGTGCGGGATGAGTATGAGT	0.582000													12	80					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838764	19838764	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:19838764A>T	ENST00000405640.1	-	2	1689	c.1021T>A	c.(1021-1023)Tcc>Acc	p.S341T	C22orf29_ENST00000328554.4_Missense_Mutation_p.S341T|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.S341T|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	341										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GTACCTAAGGACACCTCCTGG	0.587000													5	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632794	179632794	+	Silent	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:179632794A>C	ENST00000589042.1	-	39	9476	c.9252T>G	c.(9250-9252)ccT>ccG	p.P3084P	TTN_ENST00000460472.2_Silent_p.P3038P|TTN_ENST00000360870.5_Silent_p.P3084P|TTN_ENST00000359218.5_Silent_p.P3038P|TTN_ENST00000342992.6_Silent_p.P3084P|TTN_ENST00000342175.6_Silent_p.P3038P|TTN_ENST00000591111.1_Silent_p.P3084P|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2821	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGATGTCAGGTTCAGAAA	0.413000													14	38					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40362499	40362499	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:40362499C>A	ENST00000293328.3	-	14	1865	c.1697G>T	c.(1696-1698)cGg>cTg	p.R566L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	566					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGTGTAATTCCGTCCTGGTAA	0.348000													13	41					5.50884e-06	6.64102e-06	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35989825	35989825	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:35989825G>C	ENST00000297866.5	+	12	2159	c.2093G>C	c.(2092-2094)aGa>aCa	p.R698T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	698										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTCAATTAGAGCGAATCGA	0.453000													12	24					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925905	131925905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:131925905C>A	ENST00000359827.3	-	5	2486	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E508D			Q9HCM2	PLXA4_HUMAN	plexin A4	508						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCACAGGACTCCACAGGGA	0.562000													7	24					0.00307968	0.0032623	1	1	0
SNX19	399979	broad.mit.edu	37	11	130785482	130785482	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:130785482T>A	ENST00000265909.4	-	1	922	c.353A>T	c.(352-354)tAc>tTc	p.Y118F	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.Y118F|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	118	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CACGGAACGGTACCAAGATAA	0.537000													18	37					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17078617	17078617	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:17078617A>G	ENST00000395811.5	+	19	2689	c.2600A>G	c.(2599-2601)aAc>aGc	p.N867S	MPRIP_ENST00000444976.1_Missense_Mutation_p.N829S|MPRIP_ENST00000395804.3_Missense_Mutation_p.N867S|MPRIP_ENST00000341712.4_Missense_Mutation_p.N867S|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	867	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAGCTGAACAACCGCCTGGCT	0.622000													11	40					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931556	70931556	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:70931556C>T	ENST00000264436.3	-	4	663	c.219G>A	c.(217-219)gaG>gaA	p.E73E	ADD2_ENST00000355733.3_Silent_p.E73E|ADD2_ENST00000430656.1_Silent_p.E89E|ADD2_ENST00000407644.2_Silent_p.E73E|ADD2_ENST00000413157.2_Silent_p.E73E	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	73					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCTTCATCTGCTCCTGGATGA	0.597000													17	35					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310740	22310740	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:22310740A>G	ENST00000337107.6	+	6	577	c.558A>G	c.(556-558)gaA>gaG	p.E186E		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	186	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGACTATGAACACTGCTCCA	0.607000													9	32					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37398721	37398721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:37398721C>A	ENST00000535679.1	-	6	636	c.637G>T	c.(637-639)Gga>Tga	p.G213*	SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.G109*|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.G175*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.G175*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	213						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTTTTATTCCAGCAGCCAGA	0.388000													17	24					9.16793e-09	1.21313e-08	1	1	0
DAO	1610	broad.mit.edu	37	12	109278818	109278818	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:109278818G>A	ENST00000228476.3	+	2	240	c.36G>A	c.(34-36)ggG>ggA	p.G12G	DAO_ENST00000551281.1_Silent_p.G12G	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	12					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GAGTCATCGGGCTGTCCACCG	0.577000													12	69					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176958	44176958	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:44176958T>A	ENST00000360029.3	-	2	1554	c.1271A>T	c.(1270-1272)aAt>aTt	p.N424I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	424						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTGGACAGATTTGTTTCCCG	0.408000										HNSCC(17;0.042)			92	121					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785022	54785022	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:54785022G>A	ENST00000218436.6	-	8	1514	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	495					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAAGTAGTTGGGGAAAACGG	0.612000													10	31					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447456	226447456	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:226447456C>T	ENST00000272907.6	+	4	1736	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	441	Pro-rich.																CCCCCGTCAGCATGGGGAGGT	0.632000													12	45					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30769784	30769784	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:30769784C>G	ENST00000282538.5	-	15	1666	c.1516G>C	c.(1516-1518)Gac>Cac	p.D506H	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	506					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGTCCATGTCCTCCCGGCTC	0.542000													15	60					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930417	46930417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:46930417C>A	ENST00000264318.3	-	9	2472	c.1490G>T	c.(1489-1491)gGg>gTg	p.G497V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	497					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGACAACTTCCCAGTAGCCCC	0.468000													31	76					2.08457e-15	3.23808e-15	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157497585	157497585	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:157497585G>T	ENST00000361835.3	-	9	1939	c.1782C>A	c.(1780-1782)ccC>ccA	p.P594P	FCRL5_ENST00000368190.3_Silent_p.P594P|FCRL5_ENST00000368191.3_Silent_p.P509P|FCRL5_ENST00000356953.4_Silent_p.P594P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	594	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACAGGATTGGGGGAGAGCCTC	0.602000													36	96					7.11191e-15	1.09607e-14	1	1	0
VPS11	55823	broad.mit.edu	37	11	118948971	118948971	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:118948971A>T	ENST00000300793.6	+	12	1889	c.1847A>T	c.(1846-1848)gAc>gTc	p.D616V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	617					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTGCAGCCAGACTCACCCCAG	0.572000													28	147					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575938	43575938	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:43575938G>C	ENST00000406487.1	-	4	976	c.878C>G	c.(877-879)aCa>aGa	p.T293R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	293	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTATGCTTTGTAGTAATTTG	0.463000													8	202					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41570330	41570330	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:41570330C>T	ENST00000262415.3	+	6	857	c.785C>T	c.(784-786)cCc>cTc	p.P262L	DHX8_ENST00000540306.1_Missense_Mutation_p.P262L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	262						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGAAGAGCCCACCATTGGT	0.507000													36	47					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863227	99863227	+	Missense_Mutation	SNP	G	G	T	rs138652579	byFrequency	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:99863227G>T	ENST00000409679.1	-	3	244	c.100C>A	c.(100-102)Cgc>Agc	p.R34S	LYG2_ENST00000409238.1_Missense_Mutation_p.R34S|LYG2_ENST00000333017.2_Missense_Mutation_p.R34S			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TGGTACAGGCGTGGATGTAGG	0.507000													30	54					8.58068e-18	1.34888e-17	1	1	0
PASD1	139135	broad.mit.edu	37	X	150839639	150839639	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:150839639G>T	ENST00000370357.4	+	12	1446	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	401						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCAGAATGCATTGGAATT	0.463000													6	87					0.248553	0.248553	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978742	247978742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:247978742G>A	ENST00000357627.1	-	1	289	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAAGACCTGGGAAACACAGCC	0.453000													11	69					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3108219	3108219	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:3108219G>A	ENST00000336577.4	+	8	1281	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	348	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCGGACAGCTGGTGTCCCCGC	0.706000													10	46					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92825161	92825161	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:92825161C>A	ENST00000394468.2	-	8	1332	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D442Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.Q398H|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D407Y|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	419						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCAGAAACATCTGGAAAAGCA	0.393000													19	59					1.10513e-12	1.6577e-12	1	1	0
ZDHHC11	79844	broad.mit.edu	37	5	848769	848769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:848769C>A	ENST00000283441.8	-	2	612	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G77W	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	77						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AAGATCCCCCCGGTCACCTGG	0.632000													3	18					2.56e-06	3.144e-06	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18918399	18918399	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:18918399G>T	ENST00000317977.6	+	10	1498	c.927G>T	c.(925-927)gcG>gcT	p.A309A	SLC5A10_ENST00000395643.2_Silent_p.A349A|SLC5A10_ENST00000395645.3_Silent_p.A376A|SLC5A10_ENST00000417251.2_Silent_p.A340A|SLC5A10_ENST00000395647.2_Silent_p.A392A|SLC5A10_ENST00000395642.1_Silent_p.A309A			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	376					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCTGGCGGCGCTCATGTCGT	0.672000													10	34					1.08611e-07	1.38136e-07	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20345086	20345086	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr14:20345086T>A	ENST00000298642.2	+	1	696	c.660T>A	c.(658-660)atT>atA	p.I220I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	220					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)		CATATGTTATTGTCCTGGTTA	0.383000													6	77					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625020	31625020	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:31625020G>A	ENST00000375916.3	+	3	784	c.288G>A	c.(286-288)gtG>gtA	p.V96V	APOM_ENST00000375918.2_Silent_p.V24V|APOM_ENST00000375920.4_Silent_p.V24V	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	96					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GGCTCTGTGTGCCCCGGAAAT	0.507000													5	44					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342197	42342197	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:42342197T>A	ENST00000330743.3	-	4	1561	c.350A>T	c.(349-351)aAc>aTc	p.N117I	LYPD4_ENST00000601246.1_Missense_Mutation_p.N82I|LYPD4_ENST00000343055.4_Missense_Mutation_p.N82I	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	117						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATTGGTGAGGTTGTTGCAGAG	0.542000													29	56					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16640583	16640583	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:16640583C>T	ENST00000546361.2	-	8	1156	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	CHERP_ENST00000198939.6_Silent_p.Q346Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	335	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgttgctgctgctgct	0.667000													3	28					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533970	156533970	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:156533970G>A	ENST00000307851.4	-	2	792	c.62C>T	c.(61-63)tCc>tTc	p.S21F	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.S21F|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	21						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTTCTGAGGACCCTGCATA	0.547000													17	42					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059320	248059320	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:248059320G>T	ENST00000537741.1	+	3	689	c.432G>T	c.(430-432)ttG>ttT	p.L144F	OR2W3_ENST00000360358.3_Missense_Mutation_p.L144F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCGGGGCTTGGTGTCAGTGA	0.622000													34	71					5.91797e-21	9.45431e-21	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720219	140720219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140720219G>T	ENST00000394576.2	+	1	1681	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCCGAGATCCTGTA	0.627000													14	180					2.61681e-11	3.82308e-11	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141747203	141747203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:141747203G>T	ENST00000389484.3	-	17	3639	c.2668C>A	c.(2668-2670)Cag>Aag	p.Q890K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	890	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTAAACTGATCATCAGGA	0.388000										TSP Lung(27;0.18)			11	57					1.33987e-11	1.97217e-11	1	1	0
CELA3B	23436	broad.mit.edu	37	1	22310738	22310738	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:22310738G>A	ENST00000337107.6	+	6	575	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	186	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.E186K(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGTGGACTATGAACACTGCTC	0.612000													9	30					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685329	19685329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:19685329G>T	ENST00000284885.3	-	18	2131	c.2098C>A	c.(2098-2100)Cat>Aat	p.H700N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	700	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAAGCTGTATGCCATATGCTC	0.418000													15	47					5.01169e-05	5.74226e-05	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56387346	56387346	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:56387346G>A	ENST00000355701.3	-	21	4743	c.3873C>T	c.(3871-3873)atC>atT	p.I1291I	BZRAP1_ENST00000343736.4_Silent_p.I1291I|BZRAP1_ENST00000268893.6_Silent_p.I1231I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1291						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTCTCCCTGATGCTGTTGC	0.612000													29	69					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763797	14763797	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr18:14763797G>A	ENST00000358984.4	+	7	1113	c.933G>A	c.(931-933)gaG>gaA	p.E311E	ANKRD30B_ENST00000447268.2_Silent_p.E311E|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	311										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCTTGGTGGAGGGAACGTCTG	0.488000													6	16					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196791162	196791162	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:196791162T>A	ENST00000312428.6	-	22	3700	c.3600A>T	c.(3598-3600)ccA>ccT	p.P1200P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1200	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATCCCCATTGGAATAGCTG	0.328000													11	21					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9468002	9468002	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:9468002A>G	ENST00000281419.3	+	7	988	c.648A>G	c.(646-648)ttA>ttG	p.L216L	ASAP2_ENST00000315273.4_Silent_p.L216L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	216					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAGTAGATTTACTTCAGAATC	0.343000													4	26					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370682	26370682	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:26370682C>T	ENST00000356386.2	+	5	754	c.566C>T	c.(565-567)gCt>gTt	p.A189V	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A189V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A189V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A147V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A189V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A166V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	189						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AACATCCCAGCTGTGGAAGCA	0.567000													25	92					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54615854	54615854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:54615854G>T	ENST00000474759.1	+	9	961	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.E305*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.E305*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.E211*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	305	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCACTATGTGGAACCTTGCCT	0.453000													4	12					0.0215528	0.0223489	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54803555	54803555	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:54803555C>A	ENST00000391745.1	-	7	636	c.320G>T	c.(319-321)tGg>tTg	p.W107L	LILRA3_ENST00000251390.3_Missense_Mutation_p.W90L|LILRA3_ENST00000391744.3_Missense_Mutation_p.W90L					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCATGTTCCCAGGTGATGGA	0.532000													28	23					1.68575e-08	2.20834e-08	1	1	0
YY2	404281	broad.mit.edu	37	X	21875215	21875215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:21875215G>A	ENST00000429584.2	+	1	1111	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AGGCCAGGCTGAAAACCCACC	0.498000													15	164					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218481	244218481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:244218481C>A	ENST00000358704.4	+	2	1554	c.1405C>A	c.(1405-1407)Cac>Aac	p.H469N		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		TGCCGTGGTGCACACCCGCGA	0.627000													16	144					2.31682e-05	2.70181e-05	1	1	0
CYYR1	116159	broad.mit.edu	37	21	27945362	27945362	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:27945362C>T	ENST00000435845.2	-	1	241	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CYYR1_ENST00000299340.4_5'UTR|CYYR1_ENST00000400043.3_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	0						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CTCCTGAGAGCCGGGTGGAGC	0.706000													6	12					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012799	41012799	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:41012799G>T	ENST00000372699.3	+	5	1055	c.804G>T	c.(802-804)gaG>gaT	p.E268D	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ATACACTTGAGAAGTCATTTG	0.393000													16	27					1.3612e-06	1.67697e-06	1	1	0
NAV3	89795	broad.mit.edu	37	12	78225334	78225334	+	Silent	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:78225334T>C	ENST00000397909.2	+	1	266	c.93T>C	c.(91-93)acT>acC	p.T31T	NAV3_ENST00000536525.2_Silent_p.T31T|NAV3_ENST00000228327.6_Silent_p.T31T|NAV3_ENST00000266692.7_Silent_p.T31T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	31						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						ATCTTGGCACTACTGGGTCAC	0.473000										HNSCC(70;0.22)			48	83					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196205182	196205182	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:196205182T>A	ENST00000367433.5	-	26	3259	c.3158A>T	c.(3157-3159)cAa>cTa	p.Q1053L	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q1077L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q1011L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1077						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAGGGTACTTTGATGATCATT	0.328000													15	141					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95322974	95322974	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:95322974G>T	ENST00000271227.6	+	10	1258	c.1156G>T	c.(1156-1158)Ggc>Tgc	p.G386C	SLC44A3_ENST00000529450.1_Missense_Mutation_p.G354C|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.G338C|SLC44A3_ENST00000527077.1_Missense_Mutation_p.G318C|SLC44A3_ENST00000446120.2_Missense_Mutation_p.G350C|SLC44A3_ENST00000532427.1_Missense_Mutation_p.G306C	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	386						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CCATTTAATTGGCCTCATCTG	0.463000													21	34					4.35082e-09	5.95774e-09	1	1	0
OFD1	8481	broad.mit.edu	37	X	13786287	13786287	+	Silent	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:13786287T>C	ENST00000380567.1	+	22	3324	c.2452T>C	c.(2452-2454)Tta>Cta	p.L818L	OFD1_ENST00000340096.6_Silent_p.L958L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L918L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	958	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAAAATCCTTTAGAGAAATA	0.398000													11	47					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102222955	102222955	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:102222955C>G	ENST00000343737.5	+	1	158	c.30C>G	c.(28-30)atC>atG	p.I10M		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	10					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CTGTGTACATCTGTCTTTTCA	0.428000													4	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437413	179437413	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:179437413G>T	ENST00000589042.1	-	326	73670	c.73446C>A	c.(73444-73446)acC>acA	p.T24482T	TTN_ENST00000460472.2_Silent_p.T15417T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T15542T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.T21914T|TTN_ENST00000342175.6_Silent_p.T15609T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T22841T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22841	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATAAGCAGGGTGTAAGAGC	0.428000													8	68					5.68852e-11	8.21908e-11	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769772	31769772	+	Silent	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:31769772G>C	ENST00000240587.4	-	2	1254	c.927C>G	c.(925-927)gtC>gtG	p.V309V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	309					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)					CGACAGGAGTGACGGGTTCCT	0.532000													14	77					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78262111	78262111	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:78262111C>T	ENST00000582970.1	+	4	902	c.759C>T	c.(757-759)ccC>ccT	p.P253P	RNF213_ENST00000508628.2_Silent_p.P302P|RNF213_ENST00000319921.4_Silent_p.P253P|RNF213_ENST00000456466.1_Silent_p.P253P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	253										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTCTGAGCCCGGGACAGAAC	0.627000													11	57					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9656207	9656207	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:9656207G>T	ENST00000217964.7	+	7	1148	c.508G>T	c.(508-510)Gca>Tca	p.A170S	TBL1X_ENST00000536365.1_Missense_Mutation_p.A119S|TBL1X_ENST00000380961.1_Missense_Mutation_p.A119S|TBL1X_ENST00000424279.1_Missense_Mutation_p.A119S|TBL1X_ENST00000407597.2_Missense_Mutation_p.A170S	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	170	Poly-Ala.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				tgcggccacggcagcagcgac	0.657000													10	12					2.17888e-05	2.55612e-05	1	1	0
CENPC	1060	broad.mit.edu	37	4	68372620	68372620	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:68372620A>G	ENST00000273853.6	-	11	2187	c.1937T>C	c.(1936-1938)aTt>aCt	p.I646T		NM_001812.2	NP_001803.2			centromere protein C																		TGCAGTCATAATGTTATCTTC	0.333000													4	10					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147733640	147733640	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:147733640G>C	ENST00000370460.2	+	2	647	c.168G>C	c.(166-168)aaG>aaC	p.K56N	AFF2_ENST00000342251.3_Splice_Site_p.K56_splice|AFF2_ENST00000370458.1_Splice_Site_p.K56_splice|AFF2_ENST00000370457.5_Splice_Site_p.K56_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	56					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCATACAAGGTAGCTGAAT	0.368000													26	40					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572377	42572377	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:42572377T>C	ENST00000433647.1	+	8	1244	c.620T>C	c.(619-621)tTc>tCc	p.F207S	VIPR1_ENST00000543411.1_Missense_Mutation_p.F200S|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.S45P|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.F248S|VIPR1-AS1_ENST00000601312.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	248					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCCGTCTCCTTCTTCTCTGAG	0.562000													11	44					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607105	84607105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:84607105C>A	ENST00000344803.2	+	4	1767	c.1720C>A	c.(1720-1722)Cat>Aat	p.H574N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCAGTCCCCACATCTCACTCA	0.532000													35	49					2.80507e-11	4.08294e-11	1	1	0
CDKN2AIPNL	91368	broad.mit.edu	37	5	133745635	133745635	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:133745635C>G	ENST00000458198.2	-	2	341	c.298G>C	c.(298-300)Gac>Cac	p.D100H		NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	100										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGCAGGTCTTCCACTTCA	0.373000													4	36					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224177	28224177	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:28224177G>T	ENST00000305242.5	-	16	2349	c.2257C>A	c.(2257-2259)Cgg>Agg	p.R753R	ARMC4_ENST00000537576.1_Silent_p.R445R|ARMC4_ENST00000545014.1_Silent_p.R278R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	753							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTATTCCCGAAACCTAAGT	0.388000													8	21					5.18039e-06	6.28362e-06	1	1	0
THOC2	57187	broad.mit.edu	37	X	122802054	122802054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:122802054C>A	ENST00000245838.8	-	10	1004	c.973G>T	c.(973-975)Gag>Tag	p.E325*	THOC2_ENST00000491737.1_Nonsense_Mutation_p.E210*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.E325*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	325					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ttctctcgctcatccattttt	0.323000													12	49					0.00244969	0.00261611	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579944	140579944	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140579944G>T	ENST00000354757.3	+	1	597	c.597G>T	c.(595-597)gcG>gcT	p.A199A	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		199	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACAAGGCGCTGGATTATG	0.493000													16	35					3.52763e-06	4.30546e-06	1	1	0
PPM1H	57460	broad.mit.edu	37	12	63195729	63195729	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:63195729C>A	ENST00000228705.6	-	3	923	c.623G>T	c.(622-624)cGg>cTg	p.R208L		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	208	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGAGGCTGCCCGGGTCAGAGT	0.682000													30	60					2.61193e-14	3.99412e-14	1	1	0
ALOX15B	247	broad.mit.edu	37	17	7951097	7951097	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:7951097C>T	ENST00000380183.4	+	13	1854	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	ALOX15B_ENST00000380173.2_Missense_Mutation_p.P543L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.P560L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.P498L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	572	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AACCTGCCACCCAGCATGCAG	0.612000													8	48					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214566	123214566	+	Silent	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:123214566C>G	ENST00000432564.1	-	1	563	c.321G>C	c.(319-321)acG>acC	p.T107T	HCAR1_ENST00000436083.2_Silent_p.T107T|HCAR1_ENST00000356987.2_Silent_p.T107T	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	107					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CAGCCACCACCGTAAGGAACA	0.607000													12	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595266	179595266	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:179595266C>T	ENST00000589042.1	-	61	18218	c.17994G>A	c.(17992-17994)ggG>ggA	p.G5998G	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G4754G|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5681G|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5681	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGTTGTGCCCTGCCTTAT	0.383000													31	44					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:22363780G>A	ENST00000397121.2	-	3	1056	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	247					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)				TCTCCAGTATGAATTATCTTA	0.368000													20	61					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:39778723C>A	ENST00000540235.1	-	6	1032	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATTGATGTCGGCCTCCACA	0.612000													9	115					1.76689e-08	2.30694e-08	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134016153	134016153	+	Missense_Mutation	SNP	G	G	T	rs138126774		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:134016153G>T	ENST00000338492.4	+	12	1449	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	429					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGAACGTGGAGTACAA	0.657000													10	29					2.80697e-09	3.87067e-09	1	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62969328	62969328	+	RNA	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:62969328C>T	ENST00000430983.1	-	0	1290					NR_026903.1																						ATTGCAAAACCGAACCAAAAC	0.398000													5	34					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961984	1961984	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:1961984G>A	ENST00000454677.2	-	2	752	c.687C>T	c.(685-687)ggC>ggT	p.G229G	HS3ST6_ENST00000443547.1_Silent_p.G181G|HS3ST6_ENST00000293937.3_Silent_p.G212G			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	181										endometrium(2)|lung(2)	4						CGGGGCCCAGGCCGTGGCGGA	0.711000													18	30					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040722	153040722	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:153040722G>C	ENST00000538966.1	+	26	4538	c.4267G>C	c.(4267-4269)Gat>Cat	p.D1423H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1053H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1400H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1400					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCAGAGGGATCGCTGCCA	0.637000													8	8					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692641	49692641	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:49692641G>A	ENST00000296452.4	+	5	5766	c.5652G>A	c.(5650-5652)gcG>gcA	p.A1884A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1884					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGCCTGCGGGTGCCCTGG	0.627000													7	39					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147398	26147398	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:26147398A>G	ENST00000331351.5	+	2	1592	c.1200A>G	c.(1198-1200)ccA>ccG	p.P400P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	400					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P400P(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TAAAGAAGCCAGAAGACAGCA	0.473000													8	22					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957898	57957898	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:57957898T>A	ENST00000455537.2	+	4	573	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGGGAAAGCTGCACGACCCT	0.498000													4	43					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628458	3628458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:3628458C>A	ENST00000325418.4	+	1	1248	c.1229C>A	c.(1228-1230)aCt>aAt	p.T410N	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	410					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACCACTGCCACTTCTCTCTCT	0.473000													16	58					1.99824e-07	2.50897e-07	1	1	0
CPED1	79974	broad.mit.edu	37	7	120737767	120737767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:120737767G>T	ENST00000310396.5	+	6	1098	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.V211L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GCAACTTCCAGTGAGTCCCTC	0.413000													10	115					0.00829132	0.00873589	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525788	176525788	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:176525788C>A	ENST00000367662.3	+	2	1494	c.330C>A	c.(328-330)gaC>gaA	p.D110E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D110E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	110					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCCCCCAGACCTGACTGAAA	0.557000													59	126					2.12129e-23	3.40272e-23	1	1	0
CYP27B1	1594	broad.mit.edu	37	12	58156979	58156979	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:58156979G>T	ENST00000228606.4	-	9	1682	c.1473C>A	c.(1471-1473)acC>acA	p.T491T		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	491					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GGACAGTCCGGGTCTTGGGTC	0.478000													10	13					3.86212e-05	4.43805e-05	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13106984	13106984	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:13106984T>A	ENST00000319217.7	-	47	6440	c.6193A>T	c.(6193-6195)Act>Tct	p.T2065S	MPDZ_ENST00000447879.1_Missense_Mutation_p.T2032S|MPDZ_ENST00000546205.1_Missense_Mutation_p.T2079S|MPDZ_ENST00000538841.1_Missense_Mutation_p.T924S|MPDZ_ENST00000541718.1_Missense_Mutation_p.T2036S|MPDZ_ENST00000536827.1_Missense_Mutation_p.T2003S|MPDZ_ENST00000381022.2_Missense_Mutation_p.T2036S|MPDZ_ENST00000541093.1_Missense_Mutation_p.T299S|MPDZ_ENST00000381015.4_Missense_Mutation_p.T2065S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2065	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCATCAAAGTGACAGTGCCT	0.468000													21	60					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2632486	2632486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:2632486G>T	ENST00000381192.3	+	2	273	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	CD99_ENST00000381184.1_Missense_Mutation_p.A31S|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381187.3_Missense_Mutation_p.A31S	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	31					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TTTATCCGATGCCCTTCCTGG	0.308000													6	76					5.9392e-07	7.38641e-07	1	1	0
KIF16B	55614	broad.mit.edu	37	20	16316645	16316645	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:16316645C>G	ENST00000354981.2	-	24	3794	c.3637G>C	c.(3637-3639)Gag>Cag	p.E1213Q	KIF16B_ENST00000378003.2_Missense_Mutation_p.E398Q|KIF16B_ENST00000355755.3_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1213	PX.				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						GTCCATGTCTCATCTAGGACA	0.294000													7	43					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70360513	70360513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:70360513C>A	ENST00000333646.6	+	42	6281	c.6082C>A	c.(6082-6084)Ccc>Acc	p.P2028T	MED12_ENST00000374102.1_Missense_Mutation_p.P2024T|MED12_ENST00000374080.3_Missense_Mutation_p.P2025T|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2025	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCAGCAGACACCCATGATAAG	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						21	118					1.50039e-11	2.2002e-11	1	1	0
CTSK	1513	broad.mit.edu	37	1	150776601	150776601	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:150776601A>G	ENST00000271651.3	-	5	624	c.514T>C	c.(514-516)Tct>Cct	p.S172P	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	172					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCATTCTCAGACACACAATCC	0.502000													13	118					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774687	121774687	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:121774687C>T	ENST00000264808.3	-	3	426	c.186G>A	c.(184-186)ggG>ggA	p.G62G	PRDM5_ENST00000428209.2_Silent_p.G62G|PRDM5_ENST00000515109.1_Silent_p.G62G|PRDM5_ENST00000394435.2_Silent_p.G62G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	62	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCCTTACTCCCACGAACCT	0.433000													11	142					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741356	164741356	+	Splice_Site	SNP	A	A	T	rs34229566		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:164741356A>T	ENST00000264382.3	-	26	3162		c.e26+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATCAAGCATACCTTAAACTG	0.328000										HNSCC(35;0.089)			7	13					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57499067	57499067	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:57499067C>A	ENST00000420954.2	-	8	744	c.709G>T	c.(709-711)Gca>Tca	p.A237S	DAB1_ENST00000371234.4_Intron|DAB1_ENST00000371236.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000439789.2_Missense_Mutation_p.A153S|DAB1_ENST00000371231.1_Missense_Mutation_p.A272S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	272					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCTTCGTTGCCTCAAAAATC	0.403000													10	52					0.0809354	0.0828323	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23257283	23257283	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:23257283C>A	ENST00000376528.4	+	0	323				ARMC3_ENST00000409983.3_Missense_Mutation_p.L261I|ARMC3_ENST00000298032.5_Missense_Mutation_p.L261I|ARMC3_ENST00000409049.3_Missense_Mutation_p.L261I			Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding	p.L261I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCAATTGCCTTGAAGACAT	0.358000													13	19					0.0135373	0.014225	1	1	0
MRPS22	56945	broad.mit.edu	37	3	139062966	139062966	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:139062966A>T	ENST00000495075.1	+	3	530	c.98A>T	c.(97-99)cAc>cTc	p.H33L	MRPS22_ENST00000310776.4_Missense_Mutation_p.H33L|MRPS22_ENST00000465056.1_Missense_Mutation_p.H33L			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	33						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CAGCCCTGGCACGGTGGCCTG	0.627000													5	14					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89086962	89086962	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:89086962A>T	ENST00000286614.6	-	7	1374	c.1093T>A	c.(1093-1095)Ttt>Att	p.F365I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	365	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACTCGCCAAAACCACTGGTCC	0.488000													23	56					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	22					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193606	77193606	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr18:77193606G>A	ENST00000397790.2	+	0	436				NFATC1_ENST00000253506.5_Silent_p.Q418Q|NFATC1_ENST00000545796.1_De_novo_Start_InFrame|NFATC1_ENST00000592223.1_Silent_p.Q405Q|NFATC1_ENST00000542384.1_Silent_p.Q418Q|NFATC1_ENST00000427363.2_Silent_p.Q418Q|NFATC1_ENST00000587635.1_Silent_p.Q418Q|NFATC1_ENST00000329101.4_Silent_p.Q405Q|NFATC1_ENST00000318065.5_Silent_p.Q405Q|NFATC1_ENST00000591814.1_Silent_p.Q418Q|NFATC1_ENST00000586434.1_Silent_p.Q405Q	NM_172388.1	NP_765976.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGACTGGCAGCTGCCGTCCC	0.687000													24	82					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765639	110765639	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:110765639A>G	ENST00000395494.2	+	7	1394	c.831A>G	c.(829-831)gtA>gtG	p.V277V	ATP2A2_ENST00000308664.6_Silent_p.V304V|ATP2A2_ENST00000539276.2_Silent_p.V304V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	304					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGCTGTAGCAGCCATTC	0.498000													15	74					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169122938	169122938	+	Silent	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:169122938G>C	ENST00000256935.8	+	10	1055	c.975G>C	c.(973-975)gtG>gtC	p.V325V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	325					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)			CCTTTGGGGTGGCAGGTAAGG	0.473000													15	22					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971128	21971128	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:21971128G>A	ENST00000304494.5	-	2	500	c.230C>T	c.(229-231)aCt>aTt	p.T77I	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.T77I|CDKN2A_ENST00000579755.1_Silent_p.H91H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.T26I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.T77I|CDKN2A_ENST00000578845.2_Missense_Mutation_p.T26I|CDKN2A_ENST00000497750.1_Missense_Mutation_p.T26I|CDKN2A_ENST00000530628.2_Silent_p.H91H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.T26I|CDKN2A_ENST00000498628.2_Missense_Mutation_p.T26I|CDKN2A_ENST00000361570.3_Silent_p.H132H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.T77I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	77			T -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGTGAGAGTGGCGGGGTC	0.716000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	15					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979606	68979606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:68979606C>A	ENST00000433211.1	-	6	776	c.602G>T	c.(601-603)aGa>aTa	p.R201I	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R201I|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R201I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	201					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATTTCATCTCTCTGATTTGG	0.388000													14	27					6.31663e-08	8.13913e-08	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495656	71495656	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:71495656C>A	ENST00000296755.7	+	5	6772	c.6474C>A	c.(6472-6474)acC>acA	p.T2158T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2158						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCCCAGACCGACTCTGATG	0.592000													32	57					1.39806e-14	2.14623e-14	1	1	0
F9	2158	broad.mit.edu	37	X	138612926	138612926	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:138612926G>T	ENST00000218099.2	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Start_Codon_SNP_p.M1I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	1					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CAAAGGTTATGCAGCGCGTGA	0.428000													7	56					0.00198382	0.00212436	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57522237	57522237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:57522237G>T	ENST00000420713.1	+	2	223	c.111G>T	c.(109-111)caG>caT	p.Q37H		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATCATGCTCAGCAGAATTTAT	0.368000													6	45					0.00198382	0.00212436	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487781	248487781	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:248487781C>A	ENST00000317965.2	-	1	118	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCAGGACCAGAAAGAAGA	0.507000													47	326					2.24722e-20	3.57554e-20	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30991379	30991379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:30991379G>T	ENST00000262519.8	+	14	4958	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1424	Interaction with CFP1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTGAACAGATGACCATCCTGT	0.682000													8	23					0.00307968	0.0032623	1	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178555039	178555039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:178555039G>T	ENST00000251582.7	-	17	2639	c.2538C>A	c.(2536-2538)aaC>aaA	p.N846K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	846	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAGGACGTTGTTGTCGTCGA	0.587000													12	73					2.80697e-09	3.87067e-09	1	1	0
SLC25A43	203427	broad.mit.edu	37	X	118586088	118586088	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:118586088G>A	ENST00000336249.7	+	3	658	c.634G>A	c.(634-636)Gac>Aac	p.D212N	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000217909.7_Silent_p.L269L			Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GGAATGGATTGACAGCCAATT	0.562000													20	55					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867360	2867360	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:2867360G>T	ENST00000545496.1	-	7	1205	c.914C>A	c.(913-915)gCg>gAg	p.A305E	ARSE_ENST00000540563.1_Missense_Mutation_p.A235E|ARSE_ENST00000381134.3_Missense_Mutation_p.A280E			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	280					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAAGGACGCAACCTCCTG	0.488000													4	40					0.00024832	0.000275677	1	1	0
RORA	6095	broad.mit.edu	37	15	60806833	60806833	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:60806833C>T	ENST00000335670.6	-	4	506	c.406G>A	c.(406-408)Gta>Ata	p.V136I	RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.V81I|RORA_ENST00000261523.5_Missense_Mutation_p.V169I|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.V161I|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	169					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GACATCCCTACGGCAAGGCAT	0.488000													10	153					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463000													28	132					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532912	113532912	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:113532912T>A	ENST00000257600.3	+	7	1955	c.1452T>A	c.(1450-1452)ccT>ccA	p.P484P	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	484					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCAGCCGCCTGGGAAGATGG	0.642000													36	44					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154736658	154736658	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:154736658T>C	ENST00000334398.3	-	6	1041	c.896A>G	c.(895-897)cAt>cGt	p.H299R	TMLHE_ENST00000369439.4_Missense_Mutation_p.H299R|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	299					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AATATATTCATGCTTCAATGG	0.423000													23	68					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58452518	58452518	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:58452518G>T	ENST00000357552.3	-	33	3297	c.3072C>A	c.(3070-3072)aaC>aaA	p.N1024K	SYCP2_ENST00000371001.2_Missense_Mutation_p.N1024K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTG	0.323000													5	10					1.23904e-05	1.47558e-05	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82764300	82764300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:82764300G>T	ENST00000373200.2	+	1	1032	c.968G>T	c.(967-969)cGt>cTt	p.R323L		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	323			R -> G (in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes).		sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GAAGTGGTGCGTGTCTGGTTC	0.537000													4	35					0.150653	0.151812	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61291841	61291841	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:61291841T>C	ENST00000217159.1	+	4	1170	c.965T>C	c.(964-966)tTc>tCc	p.F322S	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.F322S	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	322					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GCCGCTGCTTTCTTCACCGCC	0.642000													16	57					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455356	44455356	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:44455356G>T	ENST00000441843.1	+	2	720	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F	LACC1_ENST00000325686.6_Missense_Mutation_p.V79F	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	79																	ATTTGAGATTGTTAGCTGTCC	0.383000													7	26					0.0381472	0.0392457	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930418	46930418	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:46930418C>A	ENST00000264318.3	-	9	2471	c.1489G>T	c.(1489-1491)Ggg>Tgg	p.G497W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	497					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACAACTTCCCAGTAGCCCCT	0.468000													31	76					2.08457e-15	3.23808e-15	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45431791	45431791	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr14:45431791A>T	ENST00000361462.2	+	1	350	c.167A>T	c.(166-168)gAc>gTc	p.D56V	FAM179B_ENST00000382233.2_Missense_Mutation_p.D56V|FAM179B_ENST00000361577.3_Missense_Mutation_p.D56V			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	56							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTGCGGGGGACCACGGTTCC	0.602000													10	30					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100402800	100402800	+	Splice_Site	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:100402800G>T	ENST00000372927.1	+	18	2152	c.1875_splice	c.e18+1	p.K625_splice	CENPI_ENST00000423383.1_Splice_Site_p.K625_splice|CENPI_ENST00000218507.5_Splice_Site_p.K625_splice	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	625					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.K625N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGGTACAAAAGGTATGAATGA	0.313000													9	18					1.12685e-05	1.35016e-05	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74899435	74899435	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:74899435C>T	ENST00000569840.2	+	5	1070	c.496C>T	c.(496-498)Cct>Tct	p.P166S	MGAT5B_ENST00000301618.4_Missense_Mutation_p.P166S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P177S|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	166						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCAAGTTCCCTGACTGCTC	0.647000													5	62					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167322164	167322164	+	Missense_Mutation	SNP	G	G	T	rs146804108	byFrequency	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:167322164G>T	ENST00000308378.3	-	2	333	c.28C>A	c.(28-30)Cgt>Agt	p.R10S	WDR49_ENST00000453925.2_Missense_Mutation_p.R63S|WDR49_ENST00000479765.1_Missense_Mutation_p.R351S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	10			R -> H (in a colorectal cancer sample; somatic mutation).							breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATATTAAGACGCTTTTTTGAT	0.358000													5	17					0.014758	0.0154252	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56073696	56073696	+	Silent	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:56073696A>C	ENST00000429804.2	-	10	2312	c.1752T>G	c.(1750-1752)ccT>ccG	p.P584P	CTCFL_ENST00000371196.2_Silent_p.P634P|CTCFL_ENST00000243914.3_Silent_p.P634P|CTCFL_ENST00000423479.2_Silent_p.P634P	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	634					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGCAGGCGACAGGAAACATCT	0.498000													21	35					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53853119	53853119	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:53853119G>T	ENST00000603815.1	+	6	657	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PCBP2_ENST00000541275.1_Missense_Mutation_p.V103L|PCBP2_ENST00000552819.1_Missense_Mutation_p.V103L|PCBP2_ENST00000447282.1_Missense_Mutation_p.V103L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.V103L|PCBP2_ENST00000359282.5_Missense_Mutation_p.V103L|PCBP2_ENST00000549863.1_Missense_Mutation_p.V103L|PCBP2_ENST00000548933.1_Missense_Mutation_p.V103L|PCBP2_ENST00000359462.5_Missense_Mutation_p.V103L|PCBP2_ENST00000546463.1_Missense_Mutation_p.V103L|PCBP2_ENST00000455667.3_Missense_Mutation_p.V103L|PCBP2_ENST00000439930.3_Missense_Mutation_p.V103L|PCBP2_ENST00000437231.1_Missense_Mutation_p.V103L	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	103	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.V103M(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCTGAGGCTGGTGGTCCCTGC	0.478000													4	74					0.00024832	0.000275677	1	1	0
ZNF630	57232	broad.mit.edu	37	X	47919084	47919084	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:47919084G>A	ENST00000276054.4	-	5	1309	c.375C>T	c.(373-375)gcC>gcT	p.A125A	ZNF630_ENST00000442455.3_Silent_p.A235A|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Silent_p.A249A			Q2M218	ZN630_HUMAN	zinc finger protein 630	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ACTGAACATGGGCTTGCTTAT	0.403000													9	60					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51871777	51871777	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:51871777G>C	ENST00000371733.3	-	16	1573	c.1477C>G	c.(1477-1479)Caa>Gaa	p.Q493E	EPS15_ENST00000371730.2_Intron|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.Q170E	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	493					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AGTTTCATTTGCATCTGCCAA	0.383000			T	MLL	ALL								3	16					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020674	33020674	+	RNA	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:33020674G>T	ENST00000565407.2	+	0	82				RP11-19N8.2_ENST00000567619.1_RNA																							GGAGTCTGGGGGAGGCTTGGT	0.567000													41	20					2.14674e-31	3.54482e-31	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7568187	7568187	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:7568187T>A	ENST00000340209.4	+	2	378	c.81T>A	c.(79-81)gcT>gcA	p.A27A	RBFOX1_ENST00000547372.1_Silent_p.A65A|RBFOX1_ENST00000547338.1_Silent_p.A22A|RBFOX1_ENST00000355637.4_Silent_p.A42A|RBFOX1_ENST00000436368.2_Silent_p.A42A|RBFOX1_ENST00000552089.1_Silent_p.A58A|RBFOX1_ENST00000311745.5_Silent_p.A42A|RBFOX1_ENST00000553186.1_Silent_p.A22A|RBFOX1_ENST00000422070.4_Silent_p.A65A|RBFOX1_ENST00000550418.1_Silent_p.A22A|RBFOX1_ENST00000535565.2_Silent_p.A58A			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	22					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACACAATGGCTCAGCCTTACG	0.592000													27	233					0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72645917	72645917	+	RNA	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:72645917C>T	ENST00000423083.1	+	0	981					NR_003186.1																						GAGGGTGAAGCTGTTGAGGTA	0.622000													3	30					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162731243	162731243	+	Splice_Site	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:162731243A>G	ENST00000367922.2	+	10	1536	c.1099_splice	c.e10+1	p.S366_splice	DDR2_ENST00000367921.3_Splice_Site_p.S366_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	366					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCTTCCAATCAGGTAGGGAGC	0.512000													11	60					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192150	125192150	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:125192150C>T	ENST00000431078.1	+	5	983	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	207	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGATCTCCCTGAAGTTCAA	0.498000													7	37					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30876887	30876887	+	Missense_Mutation	SNP	G	G	T	rs11542629		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:30876887G>T	ENST00000259895.4	+	2	297	c.74G>T	c.(73-75)gGc>gTc	p.G25V	GTF2H4_ENST00000539324.1_Intron|GTF2H4_ENST00000376316.2_Missense_Mutation_p.G25V	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	25					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTCTTAGGGGGCCTGAGCCCT	0.542000								Nucleotide excision repair (NER)					9	26					0.000274275	0.000303634	1	1	0
MEIS1	4211	broad.mit.edu	37	2	66670040	66670040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:66670040G>T	ENST00000488550.1	+	6	789	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	MEIS1_ENST00000495021.2_Nonsense_Mutation_p.E99*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.E164*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.E162*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.E164*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.E132*|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.E164*			O00470	MEIS1_HUMAN	Meis homeobox 1	164							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTAGGTACACGAATTATGTGA	0.383000													27	72					1.17739e-12	1.75271e-12	1	1	0
USF1	7391	broad.mit.edu	37	1	161012381	161012381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:161012381G>T	ENST00000368021.3	-	4	342	c.138C>A	c.(136-138)aaC>aaA	p.N46K	USF1_ENST00000435396.1_5'UTR|USF1_ENST00000368019.1_Missense_Mutation_p.N46K|USF1_ENST00000368020.1_Missense_Mutation_p.N46K	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	46					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGTACTTGACGTTGGGGTCAG	0.547000													5	49					0.00116845	0.00126501	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927204	92927204	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:92927204T>A	ENST00000373079.3	-	1	1363	c.1100A>T	c.(1099-1101)tAc>tTc	p.Y367F	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	367					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATTTCTGAAGTATGGGTTGGG	0.408000													9	29					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053909	97053909	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:97053909G>C	ENST00000326771.2	+	5	846	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	FHL5_ENST00000541107.1_Missense_Mutation_p.E156Q	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	156	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GCCATGTTTTGAGAAGGAGTT	0.398000													8	36					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621904	234621904	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:234621904T>A	ENST00000373414.3	+	1	267	c.267T>A	c.(265-267)ttT>ttA	p.F89L	UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGGACGAATTTGATCGCCTTT	0.413000													11	104					0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119215603	119215603	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:119215603C>A	ENST00000445041.2	-	0	912				MFRP_ENST00000555262.1_Missense_Mutation_p.Q251H|MFRP_ENST00000530681.1_Missense_Mutation_p.Q251H|MFRP_ENST00000360167.4_Missense_Mutation_p.Q251H|MFRP_ENST00000449574.2_Missense_Mutation_p.Q251H	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5						embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGGCCATAGCCTGGTACCAGG	0.607000													9	19					3.86212e-05	4.43805e-05	1	1	0
FLNA	2316	broad.mit.edu	37	X	153599395	153599395	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:153599395G>A	ENST00000422373.1	-	2	467	c.219C>T	c.(217-219)gaC>gaT	p.D73D	FLNA_ENST00000344736.4_Silent_p.D73D|FLNA_ENST00000369850.3_Silent_p.D73D|FLNA_ENST00000360319.4_Silent_p.D73D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	73	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCAGCCCGTCGCTCAGGT	0.597000													6	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436365	179436365	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:179436365G>T	ENST00000589042.1	-	326	74718	c.74494C>A	c.(74494-74496)Cca>Aca	p.P24832T	TTN_ENST00000460472.2_Missense_Mutation_p.P15767T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15892T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22264T|TTN_ENST00000342175.6_Missense_Mutation_p.P15959T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23191T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23191	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTGGGTGGGCCCCAGGAA	0.433000													20	19					8.00594e-06	9.62182e-06	1	1	0
AKR1B1	231	broad.mit.edu	37	7	134143769	134143769	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:134143769G>C	ENST00000285930.4	-	1	125	c.46C>G	c.(46-48)Ctg>Gtg	p.L16V	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	16					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CCCAACCCCAGGATGGGCATC	0.711000											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292723	102292723	+	RNA	SNP	A	A	C	rs143622092	by1000genomes	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:102292723A>C	ENST00000561463.1	+	0	769																											GCGTGGGAACAAGGAGACACT	0.587000													3	19					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129195237	129195237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:129195237G>T	ENST00000296266.3	+	11	1241	c.1049G>T	c.(1048-1050)gGt>gTt	p.G350V	IFT122_ENST00000504021.1_Missense_Mutation_p.G193V|IFT122_ENST00000347300.2_Missense_Mutation_p.G240V|IFT122_ENST00000507564.1_Missense_Mutation_p.G291V|IFT122_ENST00000348417.2_Missense_Mutation_p.G299V|IFT122_ENST00000431818.2_Missense_Mutation_p.G149V|IFT122_ENST00000349441.2_Missense_Mutation_p.G188V|IFT122_ENST00000440957.2_Missense_Mutation_p.G90V	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	299					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTGCTGGGGGGTTCAGACAAG	0.507000													27	26					1.04121e-07	1.33724e-07	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626989	187626989	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:187626989T>A	ENST00000304698.5	+	8	2123	c.1920T>A	c.(1918-1920)gcT>gcA	p.A640A		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	640						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAATGAGGCTGTTGTAATGA	0.507000													25	71					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383777	34383777	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:34383777T>A	ENST00000373381.4	-	5	1014	c.838A>T	c.(838-840)Atc>Ttc	p.I280F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	240	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCAGGGCGATGGTGTCCCCC	0.572000													5	25					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47290872	47290872	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:47290872G>A	ENST00000542575.2	-	1	979	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	117					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGTCCAGGCTGGCGGCGCCGC	0.706000													2	1					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996582	143996582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:143996582G>T	ENST00000323110.2	-	3	477	c.475C>A	c.(475-477)Ccg>Acg	p.P159T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	159					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TCCACCATCGGGAGGAACCTC	0.637000									Familial Hyperaldosteronism type I				8	28					2.17888e-05	2.55612e-05	1	1	0
FNDC7	163479	broad.mit.edu	37	1	109265029	109265029	+	Missense_Mutation	SNP	G	G	T	rs4423040	by1000genomes	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:109265029G>T	ENST00000370017.3	+	5	948	c.671G>T	c.(670-672)cGg>cTg	p.R224L	FNDC7_ENST00000271311.2_Missense_Mutation_p.R225L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	225	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCCTGGGCACGGGCAGAAGGA	0.473000													3	34					0.115264	0.117354	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103580	53103580	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:53103580G>T	ENST00000408890.4	+	1	232	c.216G>T	c.(214-216)gtG>gtT	p.V72V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGCCCGGTGCCCAGCACCC	0.711000													17	32					1.15088e-07	1.45432e-07	1	1	0
CD3EAP	10849	broad.mit.edu	37	19	45911979	45911979	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:45911979G>C	ENST00000309424.3	+	3	1241	c.753G>C	c.(751-753)aaG>aaC	p.K251N	CD3EAP_ENST00000589804.1_Missense_Mutation_p.K253N|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	251					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCACCACCAAGAAGAGGAAGA	0.542000													5	78					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720431	140720431	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140720431C>A	ENST00000394576.2	+	1	1893	c.1893C>A	c.(1891-1893)gcC>gcA	p.A631A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGAGCCCTGCTGGACA	0.697000													56	90					1.74971e-23	2.81818e-23	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138119035	138119035	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:138119035C>G	ENST00000302763.7	+	3	365	c.275C>G	c.(274-276)gCt>gGt	p.A92G	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A92G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	92	Involved in homodimerization.			A -> V (in Ref. 3; AAA86430/AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCTTGTGGCTGCTGTAGAA	0.413000													5	53					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062531	20062531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:20062531C>A	ENST00000379651.3	-	6	725	c.707G>T	c.(706-708)gGt>gTt	p.G236V	MAP7D2_ENST00000543767.1_Missense_Mutation_p.G121V|MAP7D2_ENST00000452324.3_Missense_Mutation_p.G184V|MAP7D2_ENST00000443379.3_Missense_Mutation_p.G191V|MAP7D2_ENST00000379643.5_Missense_Mutation_p.G277V	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	236										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATCTCCTGCACCAGATGTAGA	0.488000													28	74					1.5548e-18	2.45396e-18	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94794782	94794782	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:94794782T>A	ENST00000262554.2	-	15	1392	c.1387A>T	c.(1387-1389)Acc>Tcc	p.T463S		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	463						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCTTGATGGTGGACGCAGCT	0.562000													20	44					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118771062	118771062	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:118771062T>G	ENST00000394610.1	-	7	1148	c.884A>C	c.(883-885)tAt>tCt	p.Y295S	SEPT6_ENST00000394616.4_Missense_Mutation_p.Y237S|SEPT6_ENST00000343984.5_Missense_Mutation_p.Y295S|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y295S|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y295S|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y295S|SEPT6_ENST00000394617.2_Missense_Mutation_p.Y325S|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y295S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	295					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATACAGCTCATAGTGCCGGGT	0.602000			T	MLL	AML								20	67					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098191	144098191	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:144098191G>T	ENST00000467773.1	-	4	791	c.792C>A	c.(790-792)ccC>ccA	p.P264P	NOBOX_ENST00000223140.5_Silent_p.P179P|NOBOX_ENST00000483238.1_Silent_p.P264P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	264					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCACTTCCGGGGGCCCCTGCT	0.577000													14	19					0.000219431	0.000245688	1	1	0
F2RL2	2151	broad.mit.edu	37	5	75913961	75913961	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:75913961G>T	ENST00000296641.4	-	2	774	c.571C>A	c.(571-573)Cgc>Agc	p.R191S	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.R169S	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	191					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GCCAGGTAGCGGTTGATGCTG	0.537000													11	36					7.03913e-09	9.44156e-09	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861528	55861528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:55861528A>G	ENST00000302124.2	+	1	776	c.745A>G	c.(745-747)Atc>Gtc	p.I249V	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCTGTAACTATCTTTTATGG	0.488000													7	63					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544853	152544853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:152544853C>A	ENST00000397345.3	-	25	2570	c.2368G>T	c.(2368-2370)Gct>Tct	p.A790S	NEB_ENST00000172853.10_Missense_Mutation_p.A790S|NEB_ENST00000409198.1_Missense_Mutation_p.A790S|NEB_ENST00000604864.1_Missense_Mutation_p.A790S|NEB_ENST00000603639.1_Missense_Mutation_p.A790S|NEB_ENST00000427231.2_Missense_Mutation_p.A790S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	790					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACTGTGGAGCATCTGCTGGT	0.388000													6	15					1.06961e-07	1.3648e-07	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040173	31040173	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:31040173A>T	ENST00000355537.3	+	4	3794	c.3647A>T	c.(3646-3648)cAg>cTg	p.Q1216L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACCTCCCAGCCCGTCCAG	0.627000													23	40					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487440	248487440	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:248487440A>G	ENST00000317965.2	-	1	459	c.431T>C	c.(430-432)aTg>aCg	p.M144T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGGCAGTCATAAGTCCACA	0.468000													39	320					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099105	92099105	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:92099105A>C	ENST00000493463.2	-	1	1514	c.591T>G	c.(589-591)taT>taG	p.Y197*	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.Y197*|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		197					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ggattgaaacatatggcctga	0.458000													4	66					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169686	169686	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:169686G>T	ENST00000283426.6	+	12	2690	c.2640G>T	c.(2638-2640)gtG>gtT	p.V880V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	880	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTTGGCCGTGGGCCGCAGTT	0.647000													16	67					3.45872e-05	4.00966e-05	1	1	0
FAM127A	8933	broad.mit.edu	37	X	134166647	134166647	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:134166647G>T	ENST00000257013.7	+	1	315	c.234G>T	c.(232-234)caG>caT	p.Q78H	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	78										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCGCCCTGCAGTGGGTGATCC	0.602000													25	43					5.35356e-11	7.76365e-11	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53849272	53849272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:53849272G>T	ENST00000603815.1	+	4	471	c.121G>T	c.(121-123)Gag>Tag	p.E41*	PCBP2_ENST00000541275.1_Nonsense_Mutation_p.E41*|PCBP2_ENST00000552819.1_Nonsense_Mutation_p.E41*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.E41*|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.E41*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.E41*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.E41*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.E41*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.E41*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.E41*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.E41*|PCBP2_ENST00000439930.3_Nonsense_Mutation_p.E41*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.E41*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	41	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GAAGATGCGCGAGGAGGTAAG	0.343000													4	43					0.150653	0.151812	1	1	0
NHS	4810	broad.mit.edu	37	X	17750341	17750341	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:17750341G>T	ENST00000380060.3	+	8	4988	c.4650G>T	c.(4648-4650)gaG>gaT	p.E1550D	NHS_ENST00000398097.3_Missense_Mutation_p.E1394D	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1550						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGGGGCTGAGGCATTGTCCC	0.572000													31	73					2.20262e-25	3.56226e-25	1	1	0
ATP7A	538	broad.mit.edu	37	X	77275807	77275807	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:77275807G>T	ENST00000341514.6	+	13	2848	c.2693G>T	c.(2692-2694)gGg>gTg	p.G898V	ATP7A_ENST00000343533.5_Missense_Mutation_p.G820V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	898					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACCAGAACGGGTCACTGCTT	0.453000													8	77					5.4927e-09	7.46932e-09	1	1	0
MIR888	100126306	broad.mit.edu	37	X	145076338	145076338	+	RNA	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:145076338G>T	ENST00000401186.1	-	0	40					NR_030592.1																						TCAGTCACATGTAATCTAAGT	0.502000													5	9					4.096e-09	5.62842e-09	1	1	0
KIF13B	23303	broad.mit.edu	37	8	28974383	28974383	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:28974383G>A	ENST00000524189.1	-	31	3840	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1268					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTCTCTTGCGTAACACCAGT	0.592000													14	64					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753650	19753650	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:19753650G>T	ENST00000400113.3	-	2	161	c.57C>A	c.(55-57)gcC>gcA	p.A19A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	19					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTTCCCAGCAGGCATTGCCGA	0.502000													38	57					2.95478e-19	4.68237e-19	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165292	26165292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:26165292C>A	ENST00000335473.7	+	4	1659	c.1409C>A	c.(1408-1410)gCt>gAt	p.A470D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A470D|MYO18B_ENST00000407587.2_Missense_Mutation_p.A470D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	470						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGCCAGCCTGCTCTGGAGAAG	0.637000													6	9					0.0215528	0.0223489	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86914529	86914529	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:86914529G>T	ENST00000376238.4	-	6	685	c.636C>A	c.(634-636)gtC>gtA	p.V212V	SLC28A3_ENST00000537648.1_Silent_p.V143V	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	212					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAATAACAGGACAATGTACA	0.418000													7	34					1.06961e-07	1.3648e-07	1	1	0
FOXN4	121643	broad.mit.edu	37	12	109723225	109723225	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:109723225G>A	ENST00000299162.5	-	8	889	c.785C>T	c.(784-786)tCc>tTc	p.S262F	FOXN4_ENST00000355216.1_Missense_Mutation_p.S82F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	262					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCCCTTGCGGGAGGAGCCGCT	0.602000													12	34					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86529442	86529442	+	Splice_Site	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:86529442C>A	ENST00000370571.2	-	8	2074	c.1707_splice	c.e8-1	p.G570_splice	COL24A1_ENST00000436319.1_Splice_Site_p.G570_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	570	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTTTGAGACCCTGTAAAAGA	0.383000													11	43					6.40141e-05	7.25001e-05	1	1	0
PCMTD1	115294	broad.mit.edu	37	8	52746117	52746117	+	Silent	SNP	T	T	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:52746117T>G	ENST00000360540.5	-	5	949	c.543A>C	c.(541-543)ctA>ctC	p.L181L	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.L181L|PCMTD1_ENST00000544451.1_Silent_p.L105L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	181						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTCCAACTTTTAGTAATATTT	0.383000													5	28					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128813	248128813	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:248128813G>T	ENST00000366480.3	+	1	279	c.180G>T	c.(178-180)ctG>ctT	p.L60L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATCATGCTGATCCACCTCA	0.458000													17	173					1.01871e-10	1.46115e-10	1	1	0
TOP3B	8940	broad.mit.edu	37	22	22317163	22317163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:22317163C>A	ENST00000398793.2	-	12	1741	c.1307G>T	c.(1306-1308)gGg>gTg	p.G436V	TOP3B_ENST00000357179.5_Missense_Mutation_p.G436V|TOP3B_ENST00000413067.2_Missense_Mutation_p.G165V	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	436					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GAGCTCGGGCCCAATTCTGAA	0.587000													15	71					2.31682e-05	2.70181e-05	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136463	64136463	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:64136463G>T	ENST00000395254.3	+	2	791	c.511G>T	c.(511-513)Gct>Tct	p.A171S	ZNF365_ENST00000395255.3_Missense_Mutation_p.A171S|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.A171S	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATGGTTGAGGCTGTGGATAG	0.502000													44	68					1.00001e-27	1.63072e-27	1	1	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575787	149575787	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:149575787C>T	ENST00000456496.2	+	3	1271	c.320C>T	c.(319-321)gCg>gTg	p.A107V	ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.A58V|ATP6V0E2_ENST00000425642.2_Missense_Mutation_p.A58V|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.A58V|ATP6V0E2_ENST00000421974.2_Intron	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	58					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity	p.A107V(1)		lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCATCCTGGCGCAGCTGAAC	0.632000													6	58					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343151	130343151	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:130343151G>T	ENST00000299164.2	+	8	2288	c.2288G>T	c.(2287-2289)gGc>gTc	p.G763V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	763	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCGGCACGGGCACAGCGGTG	0.672000													30	69					9.39395e-14	1.42541e-13	1	1	0
ALDH3A1	218	broad.mit.edu	37	17	19645418	19645418	+	Silent	SNP	G	G	A	rs113084632		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:19645418G>A	ENST00000457500.2	-	4	917	c.588C>T	c.(586-588)atC>atT	p.I196I	ALDH3A1_ENST00000444455.1_Silent_p.I196I|ALDH3A1_ENST00000494157.2_Silent_p.I123I|ALDH3A1_ENST00000395555.3_Silent_p.I196I|ALDH3A1_ENST00000225740.6_Silent_p.I196I	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	196					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGCCGTCATGATGATCTTCC	0.607000													9	57					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725602	158725602	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:158725602C>A	ENST00000368144.2	+	1	1093	c.997C>A	c.(997-999)Cac>Aac	p.H333N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	333					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AAGGCTTTTCCACTATCAGAA	0.408000													14	54					6.31663e-08	8.13913e-08	1	1	0
APOA4	337	broad.mit.edu	37	11	116691894	116691894	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:116691894C>T	ENST00000357780.3	-	3	994	c.880G>A	c.(880-882)Ggg>Agg	p.G294R		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCAGGTGCCCACCCAGCTCT	0.657000													30	71					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831535	47831535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:47831535G>T	ENST00000359568.5	+	28	5655	c.5548G>T	c.(5548-5550)Gaa>Taa	p.E1850*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1850					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCTGAGGTCGAAGACATGGC	0.617000													14	29					1.5739e-10	2.233e-10	1	1	0
BATF2	116071	broad.mit.edu	37	11	64756699	64756699	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:64756699C>A	ENST00000301887.4	-	3	857	c.727G>T	c.(727-729)Gct>Tct	p.A243S	BATF2_ENST00000527716.1_Missense_Mutation_p.A219S|BATF2_ENST00000435842.2_Missense_Mutation_p.A158S	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	243						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCTGAGAGAGCAGGTTTGTGC	0.617000													11	31					6.40141e-05	7.25001e-05	1	1	0
HS6ST3	266722	broad.mit.edu	37	13	97484906	97484906	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:97484906G>T	ENST00000376705.2	+	2	894	c.870G>T	c.(868-870)tgG>tgT	p.W290C		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	290						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GGGATGACTGGTCTGGGGTCA	0.562000													10	37					0.0581538	0.0596721	1	1	0
CYP2B6	1555	broad.mit.edu	37	19	41497311	41497311	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:41497311C>T	ENST00000324071.4	+	1	108	c.101C>T	c.(100-102)cCc>cTc	p.P34L	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	34					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCACCAGGGCCCCGCCCTCTG	0.567000													10	278					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48053419	48053419	+	Splice_Site	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:48053419T>C	ENST00000316364.5	+	5	784		c.e5+2		SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGCATAAAGTGAGTGAAACA	0.368000													4	21					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810551	246810551	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:246810551A>T	ENST00000366513.4	+	9	1317	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C	CNST_ENST00000366512.3_Missense_Mutation_p.S350C|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	350					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGATTCCCCAAGCCTTTCGGT	0.567000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	120					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109153046	109153046	+	Silent	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:109153046A>T	ENST00000261483.4	+	13	3068	c.2016A>T	c.(2014-2016)acA>acT	p.T672T		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	672					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTTCCCCGACAGTGCAAGTGT	0.438000													32	66					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142333	106142333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:106142333G>T	ENST00000329625.5	+	4	430	c.152G>T	c.(151-153)cGc>cTc	p.R51L	DAOA_ENST00000375936.3_Missense_Mutation_p.R122L|DAOA-AS1_ENST00000448407.1_RNA			P59103	DAOA_HUMAN	D-amino acid oxidase activator	122						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tctaaggaccgcaggcagcct	0.463000													17	19					1.5739e-10	2.233e-10	1	1	0
FLG	2312	broad.mit.edu	37	1	152282951	152282951	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:152282951C>G	ENST00000368799.1	-	3	4446	c.4411G>C	c.(4411-4413)Gag>Cag	p.E1471Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1471	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCCTGCTCATGGCGGGAT	0.567000									Ichthyosis				62	498					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9801522	9801522	+	Splice_Site	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:9801522C>T	ENST00000226193.5	-	3	934		c.e3-1		RCVRN_ENST00000570909.2_Splice_Site	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin						visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GTAAGTTTATCTGTGCATTGG	0.413000													21	102					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	240044	240044	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:240044A>C	ENST00000337351.4	-	9	1020	c.897T>G	c.(895-897)caT>caG	p.H299Q	LUC7L_ENST00000397780.1_Missense_Mutation_p.H246Q|LUC7L_ENST00000293872.8_Missense_Mutation_p.H299Q|LUC7L_ENST00000397783.1_Missense_Mutation_p.H299Q	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	299	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GGTGGCGCCGATGTCTATCTC	0.627000													8	39					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024917	31024917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:31024917G>T	ENST00000375687.4	+	13	4826	c.4402G>T	c.(4402-4404)Gct>Tct	p.A1468S	ASXL1_ENST00000306058.5_Missense_Mutation_p.A1463S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1468					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAAAGGCCTTGCTGGAAGTGT	0.488000			"""F, N, Mis"""		"""MDS, CMML"""								5	56					0.00116845	0.00126501	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683155	50683155	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:50683155C>A	ENST00000008391.3	+	2	594	c.366C>A	c.(364-366)ctC>ctA	p.L122L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	122							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGCGCTCAAGTCGTCCT	0.602000													61	95					7.75977e-34	1.28675e-33	1	1	0
STEAP1B	256227	broad.mit.edu	37	7	22532260	22532260	+	Missense_Mutation	SNP	A	A	G	rs62447564	by1000genomes	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:22532260A>G	ENST00000404369.4	-	4	1101	c.686T>C	c.(685-687)aTa>aCa	p.I229T	STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	210						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGAGCCAGTATTGCCAGTCC	0.393000													4	63					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34668592	34668592	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:34668592A>G	ENST00000290200.2	+	7	1016	c.908A>G	c.(907-909)gAg>gGg	p.E303G		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta									p.E303A(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAAGACTCTGAGAGCGGCAAG	0.532000													15	80					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662000													18	30					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219816	67219816	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:67219816A>G	ENST00000312457.2	-	1	384	c.380T>C	c.(379-381)cTc>cCc	p.L127P		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGCGGTCGAGGCTGAGGGC	0.701000													15	20					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119249738	119249738	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:119249738C>G	ENST00000313400.4	-	20	3497	c.3397G>C	c.(3397-3399)Ggc>Cgc	p.G1133R	ASTN2_ENST00000361209.2_Missense_Mutation_p.G1082R|ASTN2_ENST00000361477.3_Missense_Mutation_p.G185R|ASTN2_ENST00000288520.5_Missense_Mutation_p.G234R|ASTN2_ENST00000341734.4_Missense_Mutation_p.G185R|ASTN2_ENST00000373996.3_Missense_Mutation_p.G1129R			O75129	ASTN2_HUMAN	astrotactin 2	1133	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAAGATGTGCCCAGGCCAGAG	0.507000													12	21					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239671	21239671	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:21239671G>T	ENST00000380222.2	-	1	307	c.264C>A	c.(262-264)ttC>ttA	p.F88L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	88					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGAAGAGATTGAAGGTCTGCT	0.448000													20	58					1.40151e-16	2.1944e-16	1	1	0
RRAGB	10325	broad.mit.edu	37	X	55755793	55755793	+	Splice_Site	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:55755793G>T	ENST00000374941.4	+	4	882	c.293_splice	c.e4+1	p.G98_splice	RRAGB_ENST00000262850.7_Splice_Site_p.G126_splice	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	126					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GATTGTGGTGGGTAAGTACCA	0.388000													10	39					9.70103e-10	1.36649e-09	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3334539	3334539	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:3334539G>C	ENST00000378398.3	+	12	2921	c.2839G>C	c.(2839-2841)Ggc>Cgc	p.G947R	PRDM16_ENST00000511072.1_Missense_Mutation_p.G948R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G946R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G946R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.G947R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G947R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G947R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	947	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTCAGGAAGGGCAAGGAGCG	0.667000			T	EVI1	"""MDS, AML"""								11	24					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31200400	31200400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:31200400G>T	ENST00000362065.4	+	3	1605	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	FAN1_ENST00000561594.1_Missense_Mutation_p.E438D|FAN1_ENST00000561607.1_Missense_Mutation_p.E438D|FAN1_ENST00000565466.1_Missense_Mutation_p.E438D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	438					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGTATGAAGAGATTGCCTTAG	0.348000								Direct reversal of damage					5	27					0.000602214	0.000657417	1	1	0
MAD2L1	4085	broad.mit.edu	37	4	120987882	120987882	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:120987882A>C	ENST00000296509.5	-	1	347	c.8T>G	c.(7-9)cTg>cGg	p.L3R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GGAGAGCTGCAGCGCCATGGC	0.607000													9	31					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5925546	5925546	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:5925546C>A	ENST00000203001.2	-	3	401	c.271G>T	c.(271-273)Ggc>Tgc	p.G91C	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	91					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTATCAGTGCCCGCTTCTTTA	0.358000													7	23					2.7689e-08	3.60323e-08	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89036201	89036201	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:89036201C>G	ENST00000237612.3	-	8	1396	c.851G>C	c.(850-852)tGt>tCt	p.C284S	ABCG2_ENST00000515655.1_Missense_Mutation_p.C284S	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	284	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATAGGCCTCACAGTGATAACC	0.408000													6	17					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20769269	20769269	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:20769269C>A	ENST00000359062.3	+	4	1415	c.1375C>A	c.(1375-1377)Cgg>Agg	p.R459R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	459					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGCACCAGTACGGAGAGACCG	0.547000													22	68					1.85244e-09	2.58159e-09	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17488010	17488010	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:17488010G>A	ENST00000252590.4	-	1	149	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	30						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGACGAAGAGGAAGAAGTAG	0.607000													44	61					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145628384	145628384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:145628384G>T	ENST00000296575.3	+	6	1784	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	377	Interaction with SHH zinc binding site.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GATTACACTGGATGATATGGA	0.443000													14	21					0.132662	0.134719	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70389504	70389504	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:70389504C>A	ENST00000374051.3	+	7	2366	c.2044C>A	c.(2044-2046)Cgt>Agt	p.R682S	NLGN3_ENST00000358741.3_Missense_Mutation_p.R702S|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R662S	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	702					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGAGAACCCTCGTGACTACTC	0.597000													12	33					0.0931896	0.095126	1	1	0
RYR3	6263	broad.mit.edu	37	15	33872187	33872187	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:33872187C>T	ENST00000389232.4	+	13	1349	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RYR3_ENST00000415757.3_Missense_Mutation_p.R427C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	427					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGAAACAATCGCACAGCTGC	0.567000													3	29					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793719	38793719	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:38793719G>A	ENST00000449082.2	-	11	1745	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGAGACATCGACAGCTCCAG	0.552000													16	54					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081103	61081103	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:61081103G>A	ENST00000301764.7	-	16	2334	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	646	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GACGTTGGTGGTAGAAAGAGA	0.478000								Nucleotide excision repair (NER)					6	18					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112305409	112305409	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:112305409A>G	ENST00000550735.2	+	4	976	c.220A>G	c.(220-222)Aac>Gac	p.N74D	MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.N74D	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	74	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CACACACCCAAACATAGTTCA	0.428000													33	112					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938637	27938637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:27938637C>A	ENST00000299340.4	-	2	467	c.124G>T	c.(124-126)Gga>Tga	p.G42*	CYYR1_ENST00000400043.3_Nonsense_Mutation_p.G42*|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_Nonsense_Mutation_p.G150*	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	42						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGCGTGGTTCCATCACAGCAG	0.418000													6	17					0.000157383	0.000177225	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276880	71276880	+	Missense_Mutation	SNP	G	G	T	rs36179995		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:71276880G>T	ENST00000398531.1	+	1	272	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	83	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTCCAAAGGGGGCTGTGGTTC	0.682000													64	143					3.07184e-27	4.98857e-27	1	1	0
PEX26	55670	broad.mit.edu	37	22	18566481	18566481	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr22:18566481A>G	ENST00000329627.6	+	4	856	c.650A>G	c.(649-651)cAg>cGg	p.Q217R	PEX26_ENST00000428061.2_Missense_Mutation_p.Q217R|PEX26_ENST00000399744.3_Missense_Mutation_p.Q217R	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	217					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGGAGGCCCAGAAGCCAAAC	0.567000													7	27					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162546687	162546687	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:162546687C>T	ENST00000271469.3	+	3	703	c.401C>T	c.(400-402)aCa>aTa	p.T134I	UAP1_ENST00000367926.4_Missense_Mutation_p.T134I|UAP1_ENST00000367924.1_Missense_Mutation_p.T134I|UAP1_ENST00000367925.1_Missense_Mutation_p.T134I			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	134					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCCGTAAGACACTTTTTCAG	0.433000													13	67					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78013852	78013852	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:78013852C>T	ENST00000397545.4	+	3	362	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	112					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCAGATACGACTTACCCG	0.527000													5	65					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761058	61761058	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:61761058G>T	ENST00000577390.1	-	9	2430	c.1476C>A	c.(1474-1476)aaC>aaA	p.N492K	CDH8_ENST00000584337.1_Missense_Mutation_p.N492K|CDH8_ENST00000577730.1_Missense_Mutation_p.N492K|CDH8_ENST00000299345.6_Missense_Mutation_p.N492K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	492	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N492K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCAGGGGCGTTGTCATTGA	0.393000													26	59					1.17739e-12	1.75271e-12	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731040	21731040	+	Silent	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:21731040C>G	ENST00000584755.1	+	2	739	c.342C>G	c.(340-342)ccC>ccG	p.P114P	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.P114P																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GCATCCCCCCCGACCAGCAGA	0.547000													20	49					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519585	52519585	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:52519585T>A	ENST00000270649.6	-	5	1810	c.1266A>T	c.(1264-1266)acA>acT	p.T422T	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTTCTCTCCTGTATGAGTTC	0.423000													50	57					0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512868	145512868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:145512868C>A	ENST00000307404.5	-	2	246	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	73					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			TCGTCATCATCCTCACTGCTG	0.597000													32	54					3.90053e-15	6.03507e-15	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2855615	2855615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:2855615G>T	ENST00000520002.1	-	55	8853	c.8298C>A	c.(8296-8298)aaC>aaA	p.N2766K	CSMD1_ENST00000602723.1_Missense_Mutation_p.N2708K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2708K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2766K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2707K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N2765K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2766	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATAGCCCGTGTTGCAGGTGA	0.562000													15	50					1.49906e-05	1.77449e-05	1	1	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739754	46739754	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:46739754T>G	ENST00000306448.4	-	2	1210	c.97A>C	c.(97-99)Aag>Cag	p.K33Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.K33Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	33					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTCAGCCTTGGCATCGATT	0.448000													28	59					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4408412	4408412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:4408412G>A	ENST00000251166.4	-	24	2558	c.2413C>T	c.(2413-2415)Cag>Tag	p.Q805*	CORO7_ENST00000537233.2_Nonsense_Mutation_p.Q787*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.Q720*|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.Q805*|CORO7_ENST00000539968.1_Nonsense_Mutation_p.Q585*|CORO7-PAM16_ENST00000572274.1_5'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGGGAGGACTGACGCAGCCGC	0.701000													4	26					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097932	78097932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:78097932C>A	ENST00000370801.3	-	5	1583	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCTTGAGGTTCTGATAAAGAC	0.463000													24	51					4.72057e-08	6.12272e-08	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280383	100280383	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:100280383G>A	ENST00000275732.5	-	20	3639	c.2430C>T	c.(2428-2430)ggC>ggT	p.G810G		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	810										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGGGCAGTGCCCAGGCCCC	0.642000													4	30					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987077	61987077	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:61987077G>A	ENST00000259003.10	-	5	621	c.477C>T	c.(475-477)ggC>ggT	p.G159G	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Silent_p.G138G|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000346606.6_Silent_p.G127G|CSHL1_ENST00000309894.5_Silent_p.G221G			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	221						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCCCTAGAAGCCACAGCTGC	0.592000													8	61					0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45954452	45954452	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:45954452C>T	ENST00000275521.6	-	4	976	c.843G>A	c.(841-843)gaG>gaA	p.E281E	IGFBP3_ENST00000381083.4_Silent_p.E287E|IGFBP3_ENST00000381086.5_Silent_p.E184E	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	281	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	AGTGCACGTCCTCCTTCCCCT	0.617000													8	50					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161135924	161135924	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:161135924G>A	ENST00000308192.9	+	6	709	c.646G>A	c.(646-648)Gct>Act	p.A216T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	216	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCCCACACGCTCATGGATA	0.443000													3	32					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71069054	71069054	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:71069054G>C	ENST00000452400.2	-	11	1727	c.1546C>G	c.(1546-1548)Cct>Gct	p.P516A	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	516					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTCCCACAGGGGAATGCAAG	0.572000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	75					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128180	153128180	+	Missense_Mutation	SNP	C	C	T	rs144089789		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:153128180C>T	ENST00000370060.1	-	29	3901	c.3712G>A	c.(3712-3714)Gca>Aca	p.A1238T	L1CAM_ENST00000361981.3_Missense_Mutation_p.A1229T|L1CAM_ENST00000361699.4_Missense_Mutation_p.A1234T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A1240T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A1236T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A1229T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A1238T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1238					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCCCCTGCCGCCTCCTTC	0.597000													11	64					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523306	176523306	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:176523306T>C	ENST00000292408.4	+	15	2208	c.1963T>C	c.(1963-1965)Tgg>Cgg	p.W655R	FGFR4_ENST00000502906.1_Missense_Mutation_p.W655R|FGFR4_ENST00000292410.3_Missense_Mutation_p.W615R|FGFR4_ENST00000393648.2_Missense_Mutation_p.W587R|FGFR4_ENST00000393637.1_Missense_Mutation_p.W615R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	655	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCTGTGAAGTGGATGGCGCC	0.667000										TSP Lung(9;0.080)			6	64					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988034	92988034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:92988034G>A	ENST00000268164.3	+	5	954	c.717G>A	c.(715-717)tgG>tgA	p.W239*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.W218*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	239					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GCATCCTGTGGATCCCTGCCT	0.622000													22	50					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319254	130319254	+	Missense_Mutation	SNP	A	A	G	rs147421042		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:130319254A>G	ENST00000299164.2	+	1	386	c.386A>G	c.(385-387)tAc>tGc	p.Y129C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	129					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCTTTGGCTACCGAGGCGCC	0.677000													12	64					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39449002	39449002	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:39449002T>A	ENST00000257408.4	+	4	2753	c.2656T>A	c.(2656-2658)Tac>Aac	p.Y886N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	886	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CATGGACATTTACATCACCGC	0.622000													18	131					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99052992	99052992	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:99052992G>T	ENST00000357310.1	+	5	1158	c.581G>T	c.(580-582)gGg>gTg	p.G194V	APAF1_ENST00000547045.1_Missense_Mutation_p.G194V|APAF1_ENST00000550527.1_Missense_Mutation_p.G183V|APAF1_ENST00000551964.1_Missense_Mutation_p.G194V|APAF1_ENST00000552268.1_Missense_Mutation_p.G194V|APAF1_ENST00000549007.1_Missense_Mutation_p.G194V|APAF1_ENST00000333991.1_Missense_Mutation_p.G194V|APAF1_ENST00000339433.3_Missense_Mutation_p.G194V|APAF1_ENST00000359972.2_Missense_Mutation_p.G183V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	194	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACAAATCTGGGCTTCTGATG	0.448000													32	46					1.1904e-30	1.94929e-30	1	1	0
MIR527	574497	broad.mit.edu	37	19	54257344	54257344	+	RNA	SNP	T	T	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:54257344T>G	ENST00000385244.1	+	0	73					NR_030219.1																						CTTTGGTGAATTACGGTTTGA	0.453000													5	49					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809375	8809375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:8809375C>A	ENST00000316793.3	-	3	1123	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	167					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCGCGCTGGCCACCAGGCAG	0.716000													22	23					1.28384e-07	1.61714e-07	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140517240	140517240	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140517240G>T	ENST00000231134.5	+	1	2441	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		742					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGGCACCGGGACCCTATC	0.642000													68	159					3.09758e-43	5.15826e-43	1	1	0
IL13RA2	3598	broad.mit.edu	37	X	114244193	114244193	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:114244193C>A	ENST00000371936.1	-	8	992	c.743G>T	c.(742-744)cGg>cTg	p.R248L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.R248L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	248	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGAACTCTCCCGAGTAAAAGT	0.388000													9	30					2.17888e-05	2.55612e-05	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603390	140603390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:140603390C>A	ENST00000239449.4	+	1	313	c.313C>A	c.(313-315)Cat>Aat	p.H105N	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		105	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTGTGCTGCATTTTCAGGT	0.428000													56	80					1.0442e-30	1.71703e-30	1	1	0
PKM	5315	broad.mit.edu	37	15	72502177	72502177	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:72502177C>A	ENST00000319622.6	-	5	858	c.402G>T	c.(400-402)ctG>ctT	p.L134L	PKM_ENST00000565184.1_Silent_p.L134L|PKM_ENST00000565154.1_Silent_p.L134L|PKM_ENST00000449901.2_Silent_p.L119L|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Silent_p.L134L|PKM_ENST00000389093.3_Silent_p.L134L|PKM_ENST00000335181.5_Silent_p.L134L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CTCCCTTCTTCAGCTCCACCT	0.507000													15	106					0.000219431	0.000245688	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190611142	190611142	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:190611142A>G	ENST00000520309.1	+	23	4182	c.4094A>G	c.(4093-4095)cAa>cGa	p.Q1365R	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1294R|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1365R|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1365						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CCTAAAATTCAACCAAAAGAT	0.343000													29	44					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646015	24646015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:24646015C>T	ENST00000376862.3	+	4	1285	c.652C>T	c.(652-654)Cag>Tag	p.Q218*		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	218					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGACTTGCACCAGGCCAGCAC	0.592000													44	117					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21859769	21859769	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:21859769G>A	ENST00000434536.1	+	25	3058	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	XPO7_ENST00000252512.9_Missense_Mutation_p.E977K|XPO7_ENST00000433566.4_Missense_Mutation_p.E978K			Q9UIA9	XPO7_HUMAN	exportin 7	977					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCAGCATCCAGAGATGATCCA	0.552000													4	10					0	0	1	0	0
TWIST1	7291	broad.mit.edu	37	7	19156387	19156387	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:19156387G>A	ENST00000242261.5	-	1	908	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	186	Sufficient for transactivation activity (By similarity).		A -> T (in CRS1).		aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						AGACCGAGAAGGCGTAGCTGA	0.642000													10	16					0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537211	129537211	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:129537211G>T	ENST00000388920.4	+	2	978	c.939G>T	c.(937-939)cgG>cgT	p.R313R		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	313					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TCTACAGCCGGGAAGGGACCG	0.692000													7	25					0.0293803	0.0303057	1	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130275454	130275454	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:130275454C>T	ENST00000257359.6	-	9	3375	c.2669G>A	c.(2668-2670)tGa>tAa	p.*890*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	0					negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCTGAATCACAGGGGGCA	0.622000													8	51					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709003	24709003	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr14:24709003T>A	ENST00000267415.7	-	9	1697	c.1356A>T	c.(1354-1356)tgA>tgT	p.*452C	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Nonstop_Mutation_p.*417C|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	0					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TTTAGTTCTATCACAAAGGTC	0.473000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				13	20					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33876334	33876334	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:33876334G>A	ENST00000374408.3	-	3	832	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	246										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCGTGAAGCGGCGGCCAGCC	0.617000													8	52					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660567	90660567	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:90660567A>G	ENST00000257749.4	-	7	1965	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.C420R|BACH2_ENST00000537989.1_Missense_Mutation_p.C420R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	420						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCTGTTTACAGAGAGCCTCC	0.597000													11	62					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602257	10602257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:10602257C>A	ENST00000171111.5	-	3	1868	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E441*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACTCACCTCTCCACACTGTTG	0.642000													13	11					7.03913e-09	9.44156e-09	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090621	238090621	+	RNA	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:238090621G>C	ENST00000450451.1	+	0	2127					NR_027247.2																						TCACTCACACGGTGCCCATCT	0.617000													33	23					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200725	123200725	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:123200725C>T	ENST00000528880.2	-	1	714	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TTCGTGCCACCGGAAGGTATG	0.522000													23	47					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297604	10297604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:10297604G>T	ENST00000403437.2	-	35	5222	c.5128C>A	c.(5128-5130)Ctg>Atg	p.L1710M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1710					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGCATCCAGGAGCTCCTGT	0.547000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				21	69					2.4624e-09	3.41951e-09	1	1	0
OR11A1	26531	broad.mit.edu	37	6	29394501	29394501	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:29394501G>T	ENST00000377149.1	-	5	1390	c.918C>A	c.(916-918)ctC>ctA	p.L306L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L306L|OR11A1_ENST00000377147.2_Silent_p.L306L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTTTGATACAGAGAATCTTCC	0.468000													17	33					2.48551e-13	3.74254e-13	1	1	0
SSPO	23145	broad.mit.edu	37	7	149485462	149485462	+	RNA	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:149485462C>T	ENST00000378016.2	+	0	3868							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACGTGTCCCCCCACCTGCCA	0.647000													6	42					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568221	40568221	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:40568221T>A	ENST00000342449.3	-	41	6852	c.6774A>T	c.(6772-6774)ttA>ttT	p.L2258F	BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACACATTTTCTAAACTTCTGT	0.388000													52	88					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109765031	109765031	+	RNA	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:109765031G>T	ENST00000602699.1	+	0	1492					NR_002718.2																						TCATTTGTTAGTTGCCTTAAA	0.353000													5	11					1.23904e-05	1.47558e-05	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38622507	38622507	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:38622507G>A	ENST00000413689.1	-	17	3336	c.3143C>T	c.(3142-3144)cCc>cTc	p.P1048L	SCN5A_ENST00000414099.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000333535.4_Missense_Mutation_p.P1048L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1048L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1048L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1048L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1048					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACAGCGATGGGCACACACAC	0.637000													4	28					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678904	130678904	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:130678904C>A	ENST00000338616.3	+	1	955	c.857C>A	c.(856-858)cCc>cAc	p.P286H		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATGTTGAACCCCCTGATATAT	0.393000													8	72					0.000442599	0.00048587	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960275	73960275	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:73960275T>G	ENST00000373468.1	-	3	4768	c.4117A>C	c.(4117-4119)Aca>Cca	p.T1373P	KIAA2022_ENST00000055682.5_Missense_Mutation_p.T1373P			Q5QGS0	K2022_HUMAN	KIAA2022	1373					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTGTGGTGTCCCAGCCAAT	0.468000													9	72					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388874	89388874	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:89388874T>C	ENST00000439576.2	+	7	1564	c.1190T>C	c.(1189-1191)gTg>gCg	p.V397A	ACAN_ENST00000352105.7_Missense_Mutation_p.V397A|ACAN_ENST00000561243.1_Missense_Mutation_p.V397A|ACAN_ENST00000559004.1_Missense_Mutation_p.V397A|ACAN_ENST00000558207.1_Missense_Mutation_p.V397A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	397					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGCAGCGTGATCCTTACC	0.612000													10	53					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24761396	24761396	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:24761396G>C	ENST00000379068.3	+	23	2559	c.2516G>C	c.(2515-2517)gGa>gCa	p.G839A	POLA1_ENST00000379059.3_Missense_Mutation_p.G833A			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	833					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TACAAGAAAGGACGTAAGAAA	0.383000													13	25					0	0	1	0	0
FITM2	128486	broad.mit.edu	37	20	42935640	42935640	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr20:42935640C>A	ENST00000396825.3	-	2	434	c.414G>T	c.(412-414)caG>caT	p.Q138H		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	138					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						GGTGGCACTGCTGCTTGCTCT	0.557000													20	51					1.96292e-10	2.77492e-10	1	1	0
ACE	1636	broad.mit.edu	37	17	61574532	61574532	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:61574532C>T	ENST00000290866.4	+	25	3750	c.3726C>T	c.(3724-3726)cgC>cgT	p.R1242R	ACE_ENST00000577647.1_Intron|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Silent_p.R447R|ACE_ENST00000413513.3_Silent_p.R627R|ACE_ENST00000290863.6_Silent_p.R668R|ACE_ENST00000490216.2_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1242					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACAGCGGCCGCGTCAGCTTCC	0.716000													4	19					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066507	106066507	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:106066507A>G	ENST00000357242.5	+	5	812	c.638A>G	c.(637-639)aAt>aGt	p.N213S	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.N213S|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.N213S|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.N213S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	213						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGACTTCAAATGTCATACTG	0.343000													6	27					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965576	88965576	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:88965576G>A	ENST00000333190.4	+	4	3889	c.3280G>A	c.(3280-3282)Gac>Aac	p.D1094N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1094						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GACCCAAGAAGACCAAATAAA	0.368000										HNSCC(36;0.09)			3	25					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740150	32740150	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:32740150A>G	ENST00000421745.2	+	55	10796	c.10662A>G	c.(10660-10662)ccA>ccG	p.P3554P		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3554					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACGTACACCCAAACTATTTTT	0.413000													4	38					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678325	73678325	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:73678325T>A	ENST00000264448.6	+	8	4779	c.4668T>A	c.(4666-4668)gcT>gcA	p.A1556A	ALMS1_ENST00000409009.1_Silent_p.A1514A|ALMS1_ENST00000377715.1_Silent_p.A1556A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1556	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGACCAGCTGACCAGACAA	0.463000													40	84					0	0	1	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155888	39155888	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:39155888G>A	ENST00000391587.1	-	1	250	c.218C>T	c.(217-219)cCa>cTa	p.P73L		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	73						keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				GCCCGGAGTTGGCTGGCAGGA	0.607000													14	62					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050881	134050881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:134050881G>T	ENST00000338087.5	-	9	1538	c.719C>A	c.(718-720)aCc>aAc	p.T240N	SLA_ENST00000427060.2_Missense_Mutation_p.T280N|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.T132N|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.T257N|SLA_ENST00000517648.1_Missense_Mutation_p.T213N	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	240	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GTCCTCACTGGTCAGGGACAG	0.522000													15	67					1.3612e-06	1.67697e-06	1	1	0
GPR112	139378	broad.mit.edu	37	X	135428167	135428167	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:135428167A>T	ENST00000394143.1	+	6	2593	c.2302A>T	c.(2302-2304)Aca>Tca	p.T768S	GPR112_ENST00000412101.1_Missense_Mutation_p.T563S|GPR112_ENST00000394141.1_Missense_Mutation_p.T563S|GPR112_ENST00000287534.4_Missense_Mutation_p.T705S|GPR112_ENST00000370652.1_Missense_Mutation_p.T768S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	768					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)					ACCTATGTCTACAAAACCTGC	0.348000													7	29					0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205676	88205676	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:88205676A>T	ENST00000318887.3	+	3	1191	c.881A>T	c.(880-882)gAa>gTa	p.E294V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	294					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTTAAATTTGAACAAAGTGAT	0.383000													8	25					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436415	25436415	+	RNA	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:25436415G>T	ENST00000424208.1	+	0	1010				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GACTTGCGTTGGGCCCACTGG	0.637000													13	40					5.50884e-06	6.64102e-06	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138147983	138147983	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:138147983A>T	ENST00000302763.7	+	5	670	c.580A>T	c.(580-582)Aga>Tga	p.R194*	CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.R91*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.R194*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	194	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCAGCCAAAAGACAACAGGT	0.368000													7	21					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69902781	69902781	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr10:69902781G>A	ENST00000358913.5	+	3	1475	c.987G>A	c.(985-987)gcG>gcA	p.A329A	MYPN_ENST00000540630.1_Silent_p.A329A|MYPN_ENST00000354393.2_Silent_p.A54A|MYPN_ENST00000373675.3_Silent_p.A329A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	329	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGACCATTGCGGAAGCCTTTG	0.453000													17	38					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732078	107732078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:107732078G>T	ENST00000388781.3	-	14	1777	c.1694C>A	c.(1693-1695)gCg>gAg	p.A565E	LAMB4_ENST00000205386.4_Missense_Mutation_p.A565E|LAMB4_ENST00000388780.3_Missense_Mutation_p.A565E|LAMB4_ENST00000414450.2_Missense_Mutation_p.A565E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	565	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AACCAAAGGCGCCAGTCCTTG	0.463000													14	76					1.5842e-08	2.08224e-08	1	1	0
EDA2R	60401	broad.mit.edu	37	X	65822526	65822526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:65822526C>A	ENST00000374719.3	-	5	522	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W	EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Missense_Mutation_p.G156W|EDA2R_ENST00000450752.1_Missense_Mutation_p.G156W|EDA2R_ENST00000253392.5_Missense_Mutation_p.G156W|EDA2R_ENST00000396050.1_Missense_Mutation_p.G156W	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	156					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAAGAGCCCCAGGAAGGCC	0.532000													4	5					0.184627	0.185098	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101616	168101616	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:168101616T>A	ENST00000409195.1	+	9	3803	c.3714T>A	c.(3712-3714)aaT>aaA	p.N1238K	XIRP2_ENST00000295237.9_Missense_Mutation_p.N1238K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1016K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1063					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTTTTAAATTGTAGGTGGC	0.338000													7	29					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233391317	233391317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:233391317C>A	ENST00000258385.3	+	2	163	c.131C>A	c.(130-132)cCc>cAc	p.P44H	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.P44H|CHRND_ENST00000536614.1_Missense_Mutation_p.P44H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	44					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GAGCTCCGGCCCGTGGCACAC	0.637000													27	53					9.39395e-14	1.42541e-13	1	1	0
TTC8	123016	broad.mit.edu	37	14	89338042	89338042	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr14:89338042G>T	ENST00000338104.6	+	12	1299	c.1247G>T	c.(1246-1248)tGg>tTg	p.W416L	TTC8_ENST00000380656.2_Missense_Mutation_p.W400L|TTC8_ENST00000354441.6_Missense_Mutation_p.W135L|TTC8_ENST00000358622.5_Missense_Mutation_p.W202L|TTC8_ENST00000536576.1_Missense_Mutation_p.W161L|TTC8_ENST00000345383.5_Missense_Mutation_p.W390L|TTC8_ENST00000346301.4_Missense_Mutation_p.W360L			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	426					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTGATGTCTGGTACAACTTG	0.433000													16	58					3.45872e-05	4.00966e-05	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:49208318C>A	ENST00000340334.7	-	6	840	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173Y|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158Y	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000													6	18					0.0293803	0.0303057	1	1	0
HGF	3082	broad.mit.edu	37	7	81335633	81335633	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:81335633C>T	ENST00000222390.5	-	15	1953	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E	HGF_ENST00000457544.2_Missense_Mutation_p.G571E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	576	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGATCTGATCCTTCAGGGCC	0.408000													4	56					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844857	101844857	+	Silent	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:101844857C>A	ENST00000360264.3	+	18	2333	c.2313C>A	c.(2311-2313)ctC>ctA	p.L771L	CUX1_ENST00000549414.2_Silent_p.L738L|CUX1_ENST00000292535.7_Silent_p.L760L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Silent_p.L658L|CUX1_ENST00000556210.1_Silent_p.L602L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Silent_p.L704L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	760					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACCCACCTCTCGCCATCTCCC	0.657000													10	217					3.86212e-05	4.43805e-05	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346640	71346640	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:71346640G>A	ENST00000413702.1	+	4	467	c.179G>A	c.(178-180)aGa>aAa	p.R60K	MUC7_ENST00000456088.1_Missense_Mutation_p.R60K|MUC7_ENST00000304887.5_Missense_Mutation_p.R60K|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	60						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCGTTCATTAGAAAGTCCTAT	0.453000													15	62					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342205	42342205	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:42342205G>A	ENST00000330743.3	-	4	1553	c.342C>T	c.(340-342)ctC>ctT	p.L114L	LYPD4_ENST00000601246.1_Silent_p.L79L|LYPD4_ENST00000343055.4_Silent_p.L79L	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	114						anchored to membrane|plasma membrane		p.L114L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGTTGTTGCAGAGATAAGACC	0.552000													28	57					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370276	25370276	+	Splice_Site	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:25370276T>C	ENST00000255324.5	+	11	1294	c.1240_splice	c.e11-1	p.S414_splice	RNF17_ENST00000255325.5_Splice_Site_p.S415_splice|RNF17_ENST00000381921.1_Splice_Site_p.S414_splice|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	414					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTATCCAGGTTCTGCAGAGC	0.348000													15	16					0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2936798	2936798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr12:2936798G>A	ENST00000337508.4	-	5	786	c.746C>T	c.(745-747)tCt>tTt	p.S249F	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	249					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TACCTTGAGAGAAAGCAGAGT	0.517000													18	155					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867321	107867321	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:107867321C>T	ENST00000370067.1	+	3	1291	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	NTNG1_ENST00000370071.2_Missense_Mutation_p.H222Y|NTNG1_ENST00000370074.4_Missense_Mutation_p.H222Y|NTNG1_ENST00000542803.1_Missense_Mutation_p.H222Y|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Missense_Mutation_p.H222Y|NTNG1_ENST00000370072.3_Missense_Mutation_p.H222Y|NTNG1_ENST00000370061.3_Missense_Mutation_p.H222Y|NTNG1_ENST00000370065.1_Missense_Mutation_p.H222Y|NTNG1_ENST00000370066.1_Missense_Mutation_p.H222Y|NTNG1_ENST00000370070.2_Missense_Mutation_p.H222Y|NTNG1_ENST00000370068.1_Missense_Mutation_p.H222Y			Q9Y2I2	NTNG1_HUMAN	netrin G1	222	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAAAATAATCCACTTTGAAAT	0.423000													5	29					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480248	25480248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:25480248G>A	ENST00000381884.4	-	7	2113	c.1928C>T	c.(1927-1929)aCt>aTt	p.T643I	CENPJ_ENST00000545981.1_Missense_Mutation_p.T643I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	643					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCACGTGCAGTGTGGTCCAA	0.488000													10	31					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547907	165547907	+	Silent	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:165547907T>A	ENST00000264381.3	-	2	1081	c.915A>T	c.(913-915)gcA>gcT	p.A305A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	305					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGACAACAAATGCTTCATTCA	0.398000													6	24					0	0	1	0	0
TMED7	51014	broad.mit.edu	37	5	114961392	114961392	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:114961392C>G	ENST00000456936.3	-	1	478	c.98G>C	c.(97-99)gGc>gCc	p.G33A	TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.G33A|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.G33A|TICAM2_ENST00000408996.4_Missense_Mutation_p.G33A	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		CTCAGAGGCGCCGCCGGGTCC	0.682000													5	18					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217875	130217875	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:130217875C>T	ENST00000276211.5	+	4	832	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R27W|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R151W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	163	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGCCGCATCCGGCGCTTTTT	0.627000													23	74					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81230197	81230197	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:81230197A>C	ENST00000394685.3	+	25	3703	c.3284A>C	c.(3283-3285)gAt>gCt	p.D1095A	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D1095A|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D1095A			Q8WUJ3	K1199_HUMAN	KIAA1199	1095										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCCTCTCGGATGTTCACAAT	0.577000													11	53					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119659533	119659533	+	Splice_Site	SNP	A	A	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:119659533A>C	ENST00000379735.5	-	19	2653	c.2380_splice	c.e19-1	p.A794_splice	SEC24D_ENST00000511481.1_Splice_Site_p.A424_splice|SEC24D_ENST00000419654.2_Splice_Site_p.A349_splice|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Splice_Site_p.A793_splice|SEC24D_ENST00000429811.2_Splice_Site_p.A349_splice	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	793					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGCTTTAAAAGCTACATCAC	0.383000													6	26					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74315768	74315768	+	Silent	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:74315768T>C	ENST00000263665.6	-	21	2877	c.2850A>G	c.(2848-2850)gtA>gtG	p.V950V	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	950	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCAGTACTTGTACGTTATTTT	0.363000													19	71					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56131998	56131998	+	Silent	SNP	A	A	G			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:56131998A>G	ENST00000434526.2	+	1	82	c.51A>G	c.(49-51)gcA>gcG	p.A17A	SUMF2_ENST00000437307.2_5'UTR|SUMF2_ENST00000413756.1_5'UTR|SUMF2_ENST00000395435.2_Silent_p.A17A|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000342190.6_Silent_p.A17A|SUMF2_ENST00000395436.2_Silent_p.A17A	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	0						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGCGCGGCAGTCCTGATGG	0.706000													3	13					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540356	133540356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:133540356C>T	ENST00000409261.1	-	14	4401	c.4028G>A	c.(4027-4029)gGg>gAg	p.G1343E	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1343E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1343							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGGGGTGCCCCGAGGGCCT	0.597000													11	19					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30975596	30975596	+	Missense_Mutation	SNP	C	C	A	rs146582105	byFrequency	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:30975596C>A	ENST00000262519.8	+	6	1507	c.821C>A	c.(820-822)aCg>aAg	p.T274K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	274	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACCCCCTACACGTCTCGGGGC	0.632000													20	55					8.34094e-07	1.03407e-06	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228497226	228497226	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:228497226C>T	ENST00000570156.2	+	60	15923	c.15849C>T	c.(15847-15849)ggC>ggT	p.G5283G	OBSCN_ENST00000422127.1_Silent_p.G4326G|OBSCN_ENST00000366709.4_Silent_p.G1445G|OBSCN_ENST00000366707.4_Silent_p.G1960G|OBSCN_ENST00000284548.11_Silent_p.G4326G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4326	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCACGTGGGCACGTGTAGCT	0.612000													17	64					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149296	129149296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:129149296G>T	ENST00000540052.1	+	3	2592	c.2548G>T	c.(2548-2550)Ggg>Tgg	p.G850W	BCORL1_ENST00000218147.7_Missense_Mutation_p.G850W|BCORL1_ENST00000303743.5_Missense_Mutation_p.G850W|BCORL1_ENST00000359304.2_Missense_Mutation_p.G850W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	850					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCCAGTGCCGGGCAGCTGAC	0.617000													12	99					6.40141e-05	7.25001e-05	1	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078069	90078069	+	RNA	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:90078069G>T	ENST00000390270.2	+	0	203																											TTTGTCTCCAGGGGAAAGAGC	0.522000													8	85					5.18039e-06	6.28362e-06	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12720054	12720054	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:12720054G>A	ENST00000380682.1	+	10	1501	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	332	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ATAGCCCTGCGGCTGGCCGCA	0.498000											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	58					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134481132	134481132	+	Missense_Mutation	SNP	G	G	T	rs138787183		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:134481132G>T	ENST00000339249.4	+	2	229	c.89G>T	c.(88-90)cGt>cTt	p.R30L	ZNF449_ENST00000370760.3_Missense_Mutation_p.R30L|ZNF449_ENST00000370761.3_Missense_Mutation_p.R30L	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	30	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R30H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTTTTCCGTCAGCGCTTC	0.502000													27	51					4.7796e-09	6.52217e-09	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954551	35954551	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:35954551A>T	ENST00000274278.3	-	7	1682	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	442						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGCAGGATGACACTGGCTGC	0.592000													16	26					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40720491	40720491	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr21:40720491C>T	ENST00000380749.5	-	2	310	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Missense_Mutation_p.E26K|HMGN1_ENST00000380748.1_Missense_Mutation_p.E10K	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	10					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				GCGGCGCCTTCGGCGGAGCTG	0.701000													4	20					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241697884	241697884	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:241697884G>A	ENST00000498729.2	-	26	2721	c.2475C>T	c.(2473-2475)taC>taT	p.Y825Y	KIF1A_ENST00000320389.7_Silent_p.Y816Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	816					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGCGCGGTCGTACATCTCCC	0.652000													3	26					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34249823	34249823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr9:34249823G>T	ENST00000536252.1	+	6	1528	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	UBAP1_ENST00000545103.1_Missense_Mutation_p.S441I|UBAP1_ENST00000543944.1_Missense_Mutation_p.S413I|UBAP1_ENST00000540348.1_Missense_Mutation_p.S377I|UBAP1_ENST00000359544.2_Missense_Mutation_p.S377I|UBAP1_ENST00000297661.4_Missense_Mutation_p.S377I|UBAP1_ENST00000379186.4_Intron	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	377						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AACATGCCCAGCTGTCCCCAG	0.547000													15	47					6.72482e-11	9.68079e-11	1	1	0
CUEDC1	404093	broad.mit.edu	37	17	55951056	55951056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:55951056C>A	ENST00000577830.1	-	4	900	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	CUEDC1_ENST00000577840.1_Missense_Mutation_p.A26S|CUEDC1_ENST00000407144.2_Missense_Mutation_p.A163S|CUEDC1_ENST00000360238.2_Missense_Mutation_p.A163S	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	163										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CTTGTAGGGGCTCCAGAGCCC	0.607000													7	68					1.26484e-09	1.7753e-09	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9044583	9044583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:9044583C>A	ENST00000382496.5	-	22	3672	c.3007G>T	c.(3007-3009)Gcg>Tcg	p.A1003S	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1003					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGACAGTCGCATCGTGGGAT	0.577000													17	90					1.15088e-07	1.45432e-07	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71179714	71179714	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:71179714T>A	ENST00000491238.1	-	1	274	c.121A>T	c.(121-123)Agc>Tgc	p.S41C	FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron	NM_001244815.1	NP_001231744.1	Q9H334	FOXP1_HUMAN	forkhead box P1	387					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCTTCTTGCTGTAGATGGGT	0.458000			T	PAX5	ALL								6	25					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307430	39307430	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:39307430G>A	ENST00000541347.1	-	2	810	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CX3CR1_ENST00000358309.3_Missense_Mutation_p.R223C|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R191C|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R191C	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	191					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCCACATTGCGGAGCACGGGC	0.478000													8	87					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170305	214170305	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:214170305C>T	ENST00000366958.4	+	2	1035	c.427C>T	c.(427-429)Cct>Tct	p.P143S	PROX1_ENST00000435016.1_Missense_Mutation_p.P143S|PROX1_ENST00000498508.2_Missense_Mutation_p.P143S|PROX1_ENST00000261454.4_Missense_Mutation_p.P143S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	143					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.P143S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGTCTTTCCCCTTTTGGCAG	0.507000													30	89					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655919	19655919	+	Silent	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:19655919G>A	ENST00000586018.1	+	8	2685	c.2583G>A	c.(2581-2583)aaG>aaA	p.K861K	CILP2_ENST00000291495.4_Silent_p.K855K			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	855						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGCCTTCAAGCGTAACGGCT	0.697000													4	70					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953382	8953382	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:8953382C>T	ENST00000595891.1	+	3	259	c.28C>T	c.(28-30)Cgt>Tgt	p.R10C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.R10C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	10	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GAGGAAGCAACGTGACTGTGT	0.413000													13	10					0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665543	27665543	+	Silent	SNP	C	C	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:27665543C>T	ENST00000543753.1	+	2	173	c.126C>T	c.(124-126)acC>acT	p.T42T	KRTCAP3_ENST00000407293.1_Silent_p.T24T|KRTCAP3_ENST00000288873.3_Silent_p.T42T	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	42						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCATGGCACCGTCCTGCGGC	0.711000													10	24					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:55304313G>T	ENST00000398661.2	-	9	1061	c.930C>A	c.(928-930)ggC>ggA	p.G310G	HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000274901.4_Silent_p.G280G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423000													12	57					7.03913e-09	9.44156e-09	1	1	0
PML	5371	broad.mit.edu	37	15	74315631	74315631	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr15:74315631G>T	ENST00000565898.1	+	3	1149	c.1065G>T	c.(1063-1065)gcG>gcT	p.A355A	PML_ENST00000569477.1_Silent_p.A355A|PML_ENST00000563500.1_Silent_p.A355A|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Silent_p.A355A|PML_ENST00000567543.1_Silent_p.A355A|PML_ENST00000436891.3_Silent_p.A355A|PML_ENST00000435786.2_Silent_p.A355A|PML_ENST00000395132.2_Silent_p.A355A|PML_ENST00000395135.3_Silent_p.A355A|PML_ENST00000359928.4_Silent_p.A355A|PML_ENST00000564428.1_Silent_p.A355A|PML_ENST00000354026.6_Silent_p.A355A|PML_ENST00000268058.3_Silent_p.A355A|PML_ENST00000268059.6_Silent_p.A355A			P29590	PML_HUMAN	promyelocytic leukemia	355					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCGCCAGGCGCTCTGCCGCC	0.672000			T	"""RARA, PAX5"""	"""APL, ALL"""								16	41					1.5739e-10	2.233e-10	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172084	68172084	+	Missense_Mutation	SNP	G	G	T	rs104894582		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:68172084G>T	ENST00000243457.3	+	2	1287	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V302L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	302			V -> M (in LQT7).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGAAGGCATGGTGGAAGCCAC	0.453000													22	43					7.41877e-09	9.88422e-09	1	1	0
SYCN	342898	broad.mit.edu	37	19	39694850	39694850	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:39694850G>T	ENST00000318438.6	-	1	56	c.45C>A	c.(43-45)tcC>tcA	p.S15S		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	15					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCAAGGCACGGAGGCAAGGG	0.716000													5	34					0.014758	0.0154252	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263135	248263135	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:248263135T>A	ENST00000366478.2	+	3	795	c.458T>A	c.(457-459)aTc>aAc	p.I153N	OR2L13_ENST00000358120.2_Missense_Mutation_p.I153N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	153					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)			CTGGGGTCCATCAACTCCTTG	0.478000													17	225					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184317	153184317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:153184317C>A	ENST00000370028.3	-	8	1178	c.1121G>T	c.(1120-1122)cGc>cTc	p.R374L	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R334L|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R313L|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R311L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTCAAAGCGCAGCGGGGG	0.617000													18	101					3.32936e-07	4.167e-07	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46831350	46831350	+	Silent	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:46831350T>C	ENST00000529230.1	-	6	751	c.705A>G	c.(703-705)caA>caG	p.Q235Q	CKAP5_ENST00000415402.1_Silent_p.Q235Q|CKAP5_ENST00000354558.3_Silent_p.Q235Q|CKAP5_ENST00000312055.5_Silent_p.Q235Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	235					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTAGTTCTTGTTGGGAACGAA	0.388000													4	61					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221301	48221301	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:48221301G>T	ENST00000394747.1	-	20	3093	c.2744C>A	c.(2743-2745)cCa>cAa	p.P915Q	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.P915Q|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.P915Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.P915Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	915	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P915Q(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCGGCCTATTGGGATGGTGTC	0.527000													14	12					1.5842e-08	2.08224e-08	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390421	197390421	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:197390421T>C	ENST00000367400.3	+	6	1598	c.1463T>C	c.(1462-1464)tTt>tCt	p.F488S	CRB1_ENST00000367399.2_Missense_Mutation_p.F376S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.F419S|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.F488S|CRB1_ENST00000543483.1_Missense_Mutation_p.F187S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	488	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACTTTCATTTGAGGGCGAT	0.517000													12	92					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008929	120008929	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:120008929G>A	ENST00000371311.3	-	1	850	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	199										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GACCGACGCGGCCTCCTGGAC	0.716000													40	88					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202565891	202565891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:202565891G>T	ENST00000367267.1	-	9	1446	c.1254C>A	c.(1252-1254)aaC>aaA	p.N418K	SYT2_ENST00000367268.4_Missense_Mutation_p.N418K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	418					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CTGTCTACTTGTTCTTGCCCA	0.567000													25	34					1.64293e-13	2.48336e-13	1	1	0
ADD2	119	broad.mit.edu	37	2	70931555	70931555	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:70931555G>T	ENST00000264436.3	-	4	664	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	ADD2_ENST00000355733.3_Missense_Mutation_p.Q74K|ADD2_ENST00000430656.1_Missense_Mutation_p.Q90K|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74K|ADD2_ENST00000413157.2_Missense_Mutation_p.Q74K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	74					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCTTCATCTGCTCCTGGATG	0.592000													17	34					9.16793e-09	1.21313e-08	1	1	0
ATL2	64225	broad.mit.edu	37	2	38525564	38525564	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:38525564T>A	ENST00000378954.4	-	12	1355	c.1354A>T	c.(1354-1356)Att>Ttt	p.I452F	ATL2_ENST00000332337.4_Missense_Mutation_p.I434F|ATL2_ENST00000406122.1_Missense_Mutation_p.I281F|ATL2_ENST00000539122.1_Missense_Mutation_p.I281F|ATL2_ENST00000419554.2_Missense_Mutation_p.I452F|ATL2_ENST00000402054.1_Missense_Mutation_p.I281F|ATL2_ENST00000546051.1_Missense_Mutation_p.I281F|ATL2_ENST00000452935.2_Missense_Mutation_p.I434F	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	452					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GTTTCTTCAATTTCAGCTTCA	0.413000													15	89					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75948601	75948601	+	Silent	SNP	G	G	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr5:75948601G>T	ENST00000274364.6	+	18	2418	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	IQGAP2_ENST00000502745.1_Silent_p.R203R|IQGAP2_ENST00000396234.3_Silent_p.R203R|IQGAP2_ENST00000379730.3_Silent_p.R209R	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	707	IQ 1.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAAACAACGGAAGGAGTATA	0.388000													13	45					9.05144e-12	1.3373e-11	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35369946	35369946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr1:35369946delC	ENST00000373347.1	-	3	1307	c.1039delG	c.(1039-1041)ccfs	p.A347fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.A347fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	347					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTGGCCCGGCCCCCGGGTAT	0.607													12	50	---	---	---	---					
GPR148	344561	broad.mit.edu	37	2	131487531	131487531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr2:131487531delG	ENST00000309926.4	+	1	889	c.807delG	c.(805-807)ctfs	p.L269fs		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	269						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)					ACTCAGTGCTGATCACATTGT	0.582													20	82	---	---	---	---					
CCDC174	51244	broad.mit.edu	37	3	14712618	14712619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:14712618_14712619insC	ENST00000383794.3	+	11	1394_1395	c.1321_1322insC	c.(1321-1323)cccfs	p.P441fs	CCDC174_ENST00000303688.7_Frame_Shift_Ins_p.P365fs	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		ACCCACTCCTGCCCCCGACAAC	0.550													9	61	---	---	---	---					
LRRIQ4	344657	broad.mit.edu	37	3	169546559	169546559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:169546559delT	ENST00000340806.6	+	2	1033	c.1033delT	c.(1033-1035)tgfs	p.L345fs		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	345										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCTTCAGAATTGGGCTCACT	0.373													16	20	---	---	---	---					
KLHL6	89857	broad.mit.edu	37	3	183273227	183273234	+	Frame_Shift_Del	DEL	GTCAGAGC	GTCAGAGC	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr3:183273227_183273234delGTCAGAGC	ENST00000341319.3	-	1	243_250	c.208_215delGCTCTGAC	c.(208-216)afs	p.ALT70fs		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	70										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GATGACATCTGTCAGAGCGTTTTCCATT	0.505													16	88	---	---	---	---					
LPHN3	23284	broad.mit.edu	37	4	62598657	62598657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr4:62598657delG	ENST00000512091.1	+	7	1327	c.580delG	c.(580-582)gafs	p.G194fs	LPHN3_ENST00000504896.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000514591.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.G194fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.G262fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.G262fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	194	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCATTGCTGGAAGACCAAC	0.468													8	25	---	---	---	---					
RFPL4B	442247	broad.mit.edu	37	6	112671568	112671568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:112671568delT	ENST00000441065.2	+	3	970	c.658delT	c.(658-660)ttfs	p.F221fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	221	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AGAAATCCAGTTTTTTGATGT	0.453													16	63	---	---	---	---					
ADGRG6	57211	broad.mit.edu	37	6	142714117	142714117	+	Frame_Shift_Del	DEL	G	G	-	rs117541893	by1000genomes	TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:142714117delG	ENST00000230173.6	+	8	1817	c.1341delG	c.(1339-1341)acfs	p.T447fs	GPR126_ENST00000367609.3_Frame_Shift_Del_p.T447fs|GPR126_ENST00000367608.2_Frame_Shift_Del_p.T419fs|GPR126_ENST00000296932.8_Frame_Shift_Del_p.T419fs	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	447					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGAACTACACGGTTTATGTCG	0.294													9	20	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152497558	152497558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr6:152497558delC	ENST00000367255.5	-	130	24199	c.23598delG	c.(23596-23598)tgfs	p.W7866fs	SYNE1_ENST00000341594.5_Frame_Shift_Del_p.W7478fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.W2390fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.W7866fs|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.W7795fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.W7795fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7866					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGATGCTGCCACCGGTCGT	0.483										HNSCC(10;0.0054)			25	167	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44736987	44736987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr7:44736987delC	ENST00000222673.5	+	16	2112	c.2070delC	c.(2068-2070)ctfs	p.L690fs	OGDH_ENST00000543843.1_Frame_Shift_Del_p.L641fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.L686fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.L701fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.L705fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.L540fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	690					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACCATGTGCTCCATGACCAGA	0.537													11	57	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	2944781	2944781	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr8:2944781delG	ENST00000520002.1	-	50	7870	c.7315delC	c.(7315-7317)tgfs	p.L2439fs	CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L2439fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L2439fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.L2439fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L2438fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L2438fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2439	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATTCTTCAGGGGGTGGGTC	0.498													7	76	---	---	---	---					
DNAJB13	374407	broad.mit.edu	37	11	73679450	73679450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr11:73679450delT	ENST00000339764.1	+	6	1418	c.667delT	c.(667-669)tcfs	p.F223fs	DNAJB13_ENST00000543947.1_Frame_Shift_Del_p.F48fs|DNAJB13_ENST00000537753.1_Frame_Shift_Del_p.F48fs|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	223					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACACCCTCGCTTCCGCAGGGA	0.562													11	48	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76374956	76374957	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr13:76374956_76374957insT	ENST00000357063.3	+	8	2015_2016	c.755_756insT	c.(754-756)tttfs	p.F252fs	LMO7_ENST00000377534.3_Frame_Shift_Ins_p.F252fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.F161fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.F252fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	252						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTGGACTCTTTGGGCTCGA	0.485													91	135	---	---	---	---					
EIF3CL	728689	broad.mit.edu	37	16	28403353	28403355	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:28403353_28403355delTCC	ENST00000398943.3	-	9	1021_1023	c.885_887delGGA	c.(883-888)gac>ga	p.ED295del	EIF3CL_ENST00000380876.4_In_Frame_Del_p.ED295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.ED295del					eukaryotic translation initiation factor 3, subunit C-like																		GCCTTCATTGTCCTCCTCCTCCT	0.547													4	9	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81249886	81249886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr16:81249886delC	ENST00000599697.1	-	2	426	c.427delG	c.(427-429)acfs	p.D143fs	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	143	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGGCGCAGTCCGAGGTCACC	0.662													36	68	---	---	---	---					
RHBDF2	79651	broad.mit.edu	37	17	74468789	74468789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr17:74468789delG	ENST00000591885.1	-	18	2593	c.2043delC	c.(2041-2043)atfs	p.I681fs	RHBDF2_ENST00000313080.4_Frame_Shift_Del_p.I710fs|RHBDF2_ENST00000389760.4_Frame_Shift_Del_p.I681fs			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	710					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ATGGGAGAAAGATGGCACTGG	0.597													12	32	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207077	1207077	+	Frame_Shift_Del	DEL	G	G	-	rs121913319		TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chr19:1207077delG	ENST00000326873.7	+	1	1338	c.165delG	c.(163-165)ctfs	p.L55fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	55	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.E57fs*7(4)|p.?(3)|p.G56fs*107(1)		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)		GGGACCTGCTGGGGGAAGGCT	0.607	E57fs*7(NCIH1395_LUNG)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			10	8	---	---	---	---					
GABRQ	55879	broad.mit.edu	37	X	151815617	151815617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A492-01A-11D-A24D-08	TCGA-55-A492-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd66e6a5-e432-426e-a3b6-3173d8534981	3b60f3bd-4e01-4872-8a46-d6e1aec7be28	g.chrX:151815617delG	ENST00000370306.2	+	4	535	c.515delG	c.(514-516)cgfs	p.R172fs		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	172						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.R172P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACGGTGCGGTACGGCATC	0.517													11	44	---	---	---	---