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
PLCG2	5336	broad.mit.edu	37	16	81934384	81934384	+	Splice_Site	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:81934384A>T	ENST00000359376.3	+	14	1575	c.1362_splice	c.e14+1	p.K454_splice		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	454	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATCATCATCAAGGTAGGCACC	0.622000													14	26					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565249	58565249	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:58565249C>A	ENST00000282326.1	+	6	1304	c.1057C>A	c.(1057-1059)Cgg>Agg	p.R353R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAAGCCCCCCGGAGCAAGGG	0.662000													18	53					4.96729e-08	5.58333e-08	1	1	0
UBASH3A	53347	broad.mit.edu	37	21	43862660	43862660	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:43862660C>A	ENST00000319294.6	+	12	1616	c.1585C>A	c.(1585-1587)Ctg>Atg	p.L529M	UBASH3A_ENST00000398367.1_Missense_Mutation_p.L491M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L491M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	529	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTCATGAGCCTGGAAGAGCT	0.423000													45	109					8.00217e-19	1.04937e-18	1	1	0
POLE	5426	broad.mit.edu	37	12	133233726	133233726	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:133233726C>G	ENST00000320574.5	-	29	3621	c.3578G>C	c.(3577-3579)aGa>aCa	p.R1193T	POLE_ENST00000535270.1_Missense_Mutation_p.R1166T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1193					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGTCACCTGTCTCCTGCCCTC	0.567000								DNA polymerases (catalytic subunits)					26	68					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486429	94486429	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:94486429T>G	ENST00000375708.3	-	9	2545	c.2347A>C	c.(2347-2349)Aac>Cac	p.N783H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	783					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TAGCGGGCGTTGCTCACATTG	0.657000													32	77					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100801282	100801282	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:100801282C>A	ENST00000355338.2	-	11	1964	c.1346G>T	c.(1345-1347)cGc>cTc	p.R449L	WARS_ENST00000344102.5_Missense_Mutation_p.R408L|WARS_ENST00000556645.1_Missense_Mutation_p.R408L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.R449L|WARS_ENST00000392882.2_Missense_Mutation_p.R449L|WARS_ENST00000358655.4_Missense_Mutation_p.R408L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	449					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GACCTCCTTGCGCCGGGCCTG	0.532000													29	60					8.88839e-20	1.17419e-19	1	1	0
MFAP1	4236	broad.mit.edu	37	15	44106842	44106842	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:44106842C>A	ENST00000267812.3	-	4	706	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	158						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATTTTTTCTCTCCTGTGCTC	0.463000													22	83					1.50039e-11	1.79946e-11	1	1	0
PAX9	5083	broad.mit.edu	37	14	37145590	37145590	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:37145590C>T	ENST00000361487.6	+	4	1184	c.959C>T	c.(958-960)tCg>tTg	p.S320L	PAX9_ENST00000402703.2_Missense_Mutation_p.S320L|PAX9_ENST00000554201.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	320					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ATTCCGGCATCGCTGGCGTTC	0.567000													47	130					0	0	1	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775538	27775538	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:27775538G>A	ENST00000377401.2	-	1	171	c.147C>T	c.(145-147)gtC>gtT	p.V49V		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	49					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGTCGGGGTGGACCTGCTTCA	0.592000													35	425					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33459940	33459940	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:33459940G>A	ENST00000265112.3	+	11	1535	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	TARS_ENST00000502553.1_Silent_p.L408L|TARS_ENST00000541634.1_Silent_p.L304L|TARS_ENST00000414361.2_Silent_p.L287L|TARS_ENST00000455217.2_Silent_p.L441L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	408					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGCCCTGAAACCCATGA	0.488000													10	180					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961487	51961487	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:51961487G>T	ENST00000321424.3	-	1	221	c.155C>A	c.(154-156)cCc>cAc	p.P52H	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P52H|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P52H	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	52	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATCCTGGGGGTAGGAGAA	0.582000													33	85					5.91797e-21	7.92012e-21	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70744142	70744142	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:70744142G>C	ENST00000322773.4	+	13	1188	c.1086G>C	c.(1084-1086)ttG>ttC	p.L362F		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	362					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACAGGGTTTGAAAGGTGACT	0.378000													11	35					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107720	14107720	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:14107720C>G	ENST00000235372.7	+	8	4286	c.3430C>G	c.(3430-3432)Ctt>Gtt	p.L1144V	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L943V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L943V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1144V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1144						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATCACCTTTTCTTTCCATTAA	0.388000													49	85					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341786	100341786	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:100341786G>T	ENST00000437033.2	-	6	1232	c.729C>A	c.(727-729)ccC>ccA	p.P243P	ADH7_ENST00000209665.4_Silent_p.P255P|ADH7_ENST00000476959.1_Silent_p.P263P|ADH7_ENST00000482593.1_Silent_p.P186P			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	255					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.P263P(1)|p.P255P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TAGAGTCCTTGGGACTGATAC	0.468000													25	87					2.48779e-11	2.97372e-11	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23927995	23927995	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:23927995C>G	ENST00000402377.3	-	4	498	c.357G>C	c.(355-357)gaG>gaC	p.E119D	ZNF681_ENST00000395385.3_Missense_Mutation_p.E50D	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GCACTTTGCACTCATCCACAC	0.328000													8	44					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133636484	133636484	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:133636484C>G	ENST00000409261.1	-	9	958	c.585G>C	c.(583-585)gaG>gaC	p.E195D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E195D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E195D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E195D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	195							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						ACGCTGAATTCTCTGCCTGCA	0.393000													7	36					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093212	6093212	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:6093212C>A	ENST00000217289.4	-	4	1232	c.444G>T	c.(442-444)aaG>aaT	p.K148N	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	148	FERM.|Poly-Lys.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTTCTTCTTCTTCTTAAAAT	0.303000													43	54					9.14704e-12	1.10443e-11	1	1	0
NADK2	133686	broad.mit.edu	37	5	36225700	36225700	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:36225700C>A	ENST00000397338.1	-	4	236	c.15G>T	c.(13-15)gcG>gcT	p.A5A	NADK2_ENST00000381937.4_Silent_p.A168A|NADK2_ENST00000282512.3_Silent_p.A5A|NADK2_ENST00000514504.1_Silent_p.A168A|NADK2_ENST00000506945.1_Silent_p.A5A					NAD kinase 2, mitochondrial																		AGACTTTACTCGCTGCCAGCA	0.368000													4	134					0.184627	0.185926	1	1	0
PTK2B	2185	broad.mit.edu	37	8	27308291	27308291	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:27308291G>T	ENST00000397501.1	+	30	3174	c.2366G>T	c.(2365-2367)aGc>aTc	p.S789I	PTK2B_ENST00000544172.1_Missense_Mutation_p.S789I|PTK2B_ENST00000338238.4_Missense_Mutation_p.S747I|PTK2B_ENST00000397497.4_Missense_Mutation_p.S493I|PTK2B_ENST00000346049.5_Missense_Mutation_p.S789I|PTK2B_ENST00000517339.1_Missense_Mutation_p.S747I|PTK2B_ENST00000420218.2_Missense_Mutation_p.S747I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	789					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAACCCAGCAGCCGAGAAGAG	0.577000													17	36					1.15088e-07	1.28754e-07	1	1	0
KAT5	10524	broad.mit.edu	37	11	65480860	65480860	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:65480860G>A	ENST00000341318.4	+	4	660	c.426G>A	c.(424-426)ccG>ccA	p.P142P	KAT5_ENST00000377046.3_Silent_p.P109P|KAT5_ENST00000352980.4_Intron|KAT5_ENST00000534650.1_Intron|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000530446.1_Intron	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	109					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TGCCAATCCCGGTCCAGATCA	0.667000													4	105					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846775	47846775	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:47846775T>C	ENST00000339488.4	-	3	1838	c.1805A>G	c.(1804-1806)aAt>aGt	p.N602S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	602						integral to membrane	hedgehog receptor activity										AGCAATGATATTGCTTTCATC	0.438000													50	86					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101826406	101826406	+	RNA	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:101826406G>A	ENST00000360035.2	+	0	3400					NR_002216.1															endometrium(2)|lung(8)	10						GGAGCCCTTCGATGTCTTCTT	0.512000													3	15					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16278976	16278976	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:16278976G>A	ENST00000269878.4	-	4	367	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Silent_p.L57L	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	106	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGTAAGCCTTGAGGTCGCGGG	0.552000													12	8					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135735	55135735	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:55135735A>G	ENST00000314706.3	+	1	376	c.376A>G	c.(376-378)Atg>Gtg	p.M126V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCAGGGTTGTATGGCTCAACT	0.393000													136	73					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112511	136112511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:136112511C>T	ENST00000298110.1	-	1	1322	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	441						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGAAGAAAAGCCAGATGATTA	0.507000													12	53					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090247	238090247	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:238090247G>T	ENST00000450451.1	+	0	1753					NR_027247.2																						GGCACCCCCGGCACAAGAGCA	0.602000													11	35					9.70103e-10	1.14055e-09	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52865456	52865456	+	Splice_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:52865456C>A	ENST00000252250.6	-	3	863	c.816_splice	c.e3+1	p.K272_splice		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	272	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATCTGCTCACCTTCTTCAGAG	0.483000													25	132					8.24728e-16	1.03962e-15	1	1	0
CPA6	57094	broad.mit.edu	37	8	68346418	68346418	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:68346418G>C	ENST00000297770.4	-	9	1111	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	299					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTCCGGCTCAGATTCTGGAAA	0.453000													14	51					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777280	140777280	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:140777280G>T	ENST00000371372.1	+	3	620	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G159C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G159C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G159C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G159C|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	159					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCCACAAGGGCTCTTACCT	0.592000													85	369					3.71514e-35	5.36298e-35	1	1	0
RNF17	56163	broad.mit.edu	37	13	25362140	25362140	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:25362140G>T	ENST00000255324.5	+	7	678	c.626G>T	c.(625-627)tGt>tTt	p.C209F	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.C209F|RNF17_ENST00000255325.5_Missense_Mutation_p.C210F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	209					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)		AAGAACCTGTGTGAAGAATTT	0.269000													21	35					9.95505e-16	1.25269e-15	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	108					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33867762	33867762	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:33867762G>C	ENST00000374450.3	-	5	793	c.529C>G	c.(529-531)Ctt>Gtt	p.L177V	RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.L177V|EIF6_ENST00000374443.3_Missense_Mutation_p.L158V	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	177					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGACTTGAAGAAGAGAGGAC	0.532000													135	241					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420369	105420369	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:105420369C>T	ENST00000258494.9	-	22	2810	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	890	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CAAATGGGGCCGCCACATCTG	0.398000													37	126					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457080	20457080	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:20457080G>T	ENST00000426804.1	-	1	4706	c.4222C>A	c.(4222-4224)Caa>Aaa	p.Q1408K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTTGTCCTTGCCTGCTGTGG	0.607000													12	27					2.27111e-07	2.52502e-07	1	1	0
PANK2	80025	broad.mit.edu	37	20	3891395	3891395	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:3891395C>T	ENST00000497424.1	+	3	591	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Silent_p.L385L	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	385			R -> P.		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCGTATCCTCTGCTTCTGGT	0.393000													27	104					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648391	130648391	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:130648391G>C	ENST00000539839.1	+	1	1388	c.806G>C	c.(805-807)gGa>gCa	p.G269A	FZD10_ENST00000229030.4_Missense_Mutation_p.E302Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	175					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGTCATCCAGGAGGGACTGGA	0.647000													31	90					0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	135					central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562000													17	98					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537565	73537565	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:73537565G>T	ENST00000224721.6	+	38	4994	c.4989G>T	c.(4987-4989)caG>caT	p.Q1663H		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1658	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCACCATCCAGGCACTGGACC	0.577000													16	20					1.62849e-17	2.10469e-17	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	97					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160137240	160137240	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:160137240C>T	ENST00000357388.3	+	12	2217	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.S564L|SMC4_ENST00000344722.5_Missense_Mutation_p.S589L|SMC4_ENST00000462787.1_Missense_Mutation_p.S589L|SMC4_ENST00000360111.2_Missense_Mutation_p.S589L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	589	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAAAGAGCTCATTAGCAATG	0.323000													23	43					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39390680	39390680	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:39390680G>T	ENST00000572515.1	+	1	89	c.8G>T	c.(7-9)gGg>gTg	p.G3V	NFKBIB_ENST00000313582.5_Missense_Mutation_p.G3V|NFKBIB_ENST00000392079.3_5'UTR			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	3					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCATGGCTGGGGTCGCGTGC	0.716000											OREG0032100	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	6	5					0.217242	0.218156	1	1	0
BBX	56987	broad.mit.edu	37	3	107492238	107492238	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:107492238G>T	ENST00000415149.2	+	11	1997	c.1670G>T	c.(1669-1671)aGt>aTt	p.S557I	BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S557I|BBX_ENST00000402543.1_Missense_Mutation_p.S557I|BBX_ENST00000406780.1_Missense_Mutation_p.S557I	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATTTCATTAGTATTTCTGCT	0.433000													11	65					3.86212e-05	4.12113e-05	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123847694	123847694	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:123847694G>A	ENST00000531945.1	-	1	794	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCTGCCACGATGAAGATGT	0.592000													22	94					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189537	47189537	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:47189537G>C	ENST00000337137.4	+	3	425	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.E40Q|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.E40Q|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.E68Q|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.E87Q	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	87						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CATGGCGGCGGAGAGCCTGAA	0.662000													20	41					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455151	187455151	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:187455151T>C	ENST00000307161.5	-	2	946	c.745A>G	c.(745-747)Att>Gtt	p.I249V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	249					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCCAGCAAATGGCAAAAAGG	0.527000													43	72					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005130	25005130	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:25005130G>A	ENST00000382114.4	-	8	1766	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	527						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTTTGAAACTGGATGCAAAAA	0.393000													3	47					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383254	22383254	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:22383254C>T	ENST00000328795.4	+	1	873	c.782C>T	c.(781-783)cCt>cTt	p.P261L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACATGTGCCCTTTCAGGGCC	0.448000													75	150					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387593	39387593	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:39387593G>T	ENST00000402182.3	+	6	1035	c.980G>T	c.(979-981)cGg>cTg	p.R327L	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R302L|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R327L			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	327					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CAAATGCTGCGGGATGCTGGG	0.572000													13	106					3.27435e-08	3.72133e-08	1	1	0
HYAL2	8692	broad.mit.edu	37	3	50357383	50357383	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:50357383C>G	ENST00000447092.1	-	1	2830	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	HYAL2_ENST00000357750.4_Missense_Mutation_p.E180Q|HYAL2_ENST00000442581.1_Missense_Mutation_p.E180Q|HYAL2_ENST00000395139.3_Missense_Mutation_p.E180Q			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	180						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCTGCGAACTCAAACTCATAT	0.552000													27	138					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52329857	52329857	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:52329857A>G	ENST00000371068.5	+	6	1184	c.1081A>G	c.(1081-1083)Atc>Gtc	p.I361V	EFHC1_ENST00000538167.1_Missense_Mutation_p.I342V|EFHC1_ENST00000433625.2_Missense_Mutation_p.I270V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	361						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAAGTTTGGAATCACTGATTT	0.383000													17	60					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102548	66102548	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:66102548C>A	ENST00000349533.6	+	20	3533	c.3348C>A	c.(3346-3348)ctC>ctA	p.L1116L	LEPR_ENST00000406510.3_Silent_p.L183L	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1116					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCAGAGTTCTCCAGGACAGTT	0.418000													35	36					1.90571e-15	2.37716e-15	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138650351	138650351	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:138650351C>A	ENST00000298480.5	+	10	925	c.851C>A	c.(850-852)aCg>aAg	p.T284K	KCNT1_ENST00000487664.1_Missense_Mutation_p.T236K|KCNT1_ENST00000491806.2_Missense_Mutation_p.T251K|KCNT1_ENST00000263604.3_Missense_Mutation_p.T265K|KCNT1_ENST00000488444.2_Missense_Mutation_p.T265K|KCNT1_ENST00000486577.2_Missense_Mutation_p.T245K|KCNT1_ENST00000371757.2_Missense_Mutation_p.T284K|KCNT1_ENST00000490355.2_Missense_Mutation_p.T265K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	284						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCGTTTTCACGGGGTGAGTG	0.617000													60	80					3.00063e-23	4.1158e-23	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13820573	13820573	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:13820573C>A	ENST00000265104.4	-	41	6827	c.6723G>T	c.(6721-6723)tgG>tgT	p.W2241C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2241	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTCAGTTTCCAAGGAGGAT	0.517000									Kartagener syndrome				63	42					1.80625e-27	2.53088e-27	1	1	0
AIM2	9447	broad.mit.edu	37	1	159035974	159035974	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:159035974A>C	ENST00000368130.4	-	4	830	c.542T>G	c.(541-543)gTg>gGg	p.V181G	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	181	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTCTGTAGCCACTGTAGCATG	0.378000													11	155					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159043	154159043	+	Missense_Mutation	SNP	C	C	A	rs80201919		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:154159043C>A	ENST00000360256.4	-	14	3222	c.3022G>T	c.(3022-3024)Gcc>Tcc	p.A1008S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1008	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGAATAAGGCATTATCTTTA	0.348000													22	26					2.89027e-11	3.44905e-11	1	1	0
TOM1	10043	broad.mit.edu	37	22	35723360	35723360	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:35723360G>T	ENST00000382034.5	+	8	886	c.544G>T	c.(544-546)Gca>Tca	p.A182S	TOM1_ENST00000436462.2_Missense_Mutation_p.A211S|TOM1_ENST00000425375.1_Missense_Mutation_p.A204S|TOM1_ENST00000449058.2_Missense_Mutation_p.A249S|TOM1_ENST00000411850.1_Missense_Mutation_p.A249S|TOM1_ENST00000447733.1_Missense_Mutation_p.A216S			O60784	TOM1_HUMAN	target of myb1 (chicken)	249					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GGCCGAGCCCGCAGACCTGGA	0.622000													20	30					1.56452e-12	1.9116e-12	1	1	0
TENM4	26011	broad.mit.edu	37	11	78419498	78419498	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:78419498C>G	ENST00000278550.7	-	27	4579	c.4117G>C	c.(4117-4119)Gat>Cat	p.D1373H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCATTCTGATCGATGCGTCTG	0.512000													16	59					0	0	1	0	0
DDA1	79016	broad.mit.edu	37	19	17424908	17424908	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:17424908C>G	ENST00000359866.4	+	2	204	c.80C>G	c.(79-81)gCc>gGc	p.A27G		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	27										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						GTGTGCAAAGCCTCGGTGAGT	0.532000													11	107					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964174	38964174	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:38964174C>A	ENST00000355481.4	+	28	4054	c.3923C>A	c.(3922-3924)cCg>cAg	p.P1308Q	RYR1_ENST00000360985.3_Missense_Mutation_p.P1308Q|RYR1_ENST00000359596.3_Missense_Mutation_p.P1308Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1308	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGCCACCCCGCTGGCACCT	0.701000													14	16					4.3838e-07	4.86636e-07	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443584	5443584	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:5443584C>T	ENST00000300778.4	+	1	244	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGTCATTCGCACAGAGCC	0.562000													59	110					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504337	16504337	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:16504337G>T	ENST00000304523.5	-	8	1374	c.1051C>A	c.(1051-1053)Ccg>Acg	p.P351T	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.P349T|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	351							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTGTTCCACGGGCTGTTGTTC	0.517000													60	209					3.28156e-27	4.58905e-27	1	1	0
ARAP2	116984	broad.mit.edu	37	4	36230664	36230664	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:36230664G>C	ENST00000303965.4	-	2	934	c.445C>G	c.(445-447)Cct>Gct	p.P149A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	149					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCGCGTTTAGGAGGAGACAGC	0.408000													24	44					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038927	11038927	+	RNA	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:11038927C>A	ENST00000470054.1	-	0	1276									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACACATCTGCCTTGCTTATGT	0.428000													13	489					9.16793e-09	1.05875e-08	1	1	0
OR10A3	26496	broad.mit.edu	37	11	7960287	7960287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:7960287G>A	ENST00000360759.3	-	1	854	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATTTGGGTTGTAAATAAGTC	0.468000													14	44					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6138218	6138218	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:6138218C>A	ENST00000400104.3	-	14	1374	c.1174G>T	c.(1174-1176)Ggt>Tgt	p.G392C	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G392C|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G392C|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G205C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G392C			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	392					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TAACGTGGACCACGGATATGG	0.453000													7	17					0.0381472	0.0387975	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47684047	47684047	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:47684047C>T	ENST00000397708.1	-	14	3573	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1107T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1107					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCGGCAGCTGCGTAGGCAGCA	0.637000													12	39					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796224	57796224	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:57796224G>A	ENST00000309042.7	+	4	1514	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	400	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGCTTCCAAGAAGTGTAATC	0.368000													46	110					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893301	75893301	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:75893301G>C	ENST00000274364.6	+	10	1242	c.945G>C	c.(943-945)ccG>ccC	p.P315P	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	315					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)		CTGTCATTCCGGAAGGTGACC	0.522000													17	34					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505293	24505293	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:24505293G>T	ENST00000264463.4	-	8	1828	c.1321C>A	c.(1321-1323)Ctt>Att	p.L441I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	441	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATGTATAAAGAGATCCATTT	0.363000										HNSCC(23;0.051)			14	91					1.49906e-05	1.60918e-05	1	1	0
FIBCD1	84929	broad.mit.edu	37	9	133780697	133780697	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:133780697G>T	ENST00000372338.4	-	6	1292	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	FIBCD1_ENST00000448616.1_Missense_Mutation_p.F350L|FIBCD1_ENST00000372337.2_Missense_Mutation_p.F192L|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	350	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGCCCACGCCGAAGCTCCCGT	0.632000													6	53					0.00116845	0.00120897	1	1	0
TPO	7173	broad.mit.edu	37	2	1481040	1481040	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:1481040G>T	ENST00000345913.4	+	8	1093	c.1002G>T	c.(1000-1002)ccG>ccT	p.P334P	TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Silent_p.P334P|TPO_ENST00000346956.3_Silent_p.P334P|TPO_ENST00000337415.3_Silent_p.P334P|TPO_ENST00000329066.4_Silent_p.P334P|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	334					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAGCTCCCCGGCCCTAGAGA	0.692000													8	9					0.000274275	0.000288371	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21750193	21750193	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:21750193G>T	ENST00000328843.6	+	42	6758	c.6727G>T	c.(6727-6729)Ggt>Tgt	p.G2243C	DNAH11_ENST00000409508.3_Missense_Mutation_p.G2236C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2243	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATTTTATAGGTCTCTTCTC	0.343000									Kartagener syndrome				15	14					1.15088e-07	1.28754e-07	1	1	0
MATR3	9782	broad.mit.edu	37	5	138651794	138651794	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:138651794C>T	ENST00000394800.2	+	9	1595	c.1046C>T	c.(1045-1047)aCa>aTa	p.T349I	MATR3_ENST00000510056.1_Missense_Mutation_p.T349I|MATR3_ENST00000504203.1_Missense_Mutation_p.T11I|MATR3_ENST00000503811.1_Missense_Mutation_p.T61I|MATR3_ENST00000502929.1_Missense_Mutation_p.T349I|MATR3_ENST00000502499.1_Missense_Mutation_p.T11I|MATR3_ENST00000394805.3_Missense_Mutation_p.T349I|MATR3_ENST00000361059.2_Missense_Mutation_p.T349I|MATR3_ENST00000509990.1_Missense_Mutation_p.T349I			P43243	MATR3_HUMAN	matrin 3	349						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCAGTCTACAAATCCAGCA	0.388000													46	49					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132285746	132285746	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:132285746T>C	ENST00000295171.6	+	1	341	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.L68P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	68										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCGGAGATGCTGGCCAAGCTC	0.647000													7	35					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961254	5961254	+	Missense_Mutation	SNP	C	C	T	rs115887613	by1000genomes	TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:5961254C>T	ENST00000531445.1	-	7	2147	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	C4orf50_ENST00000324058.5_Missense_Mutation_p.G227R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	227										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CAGGGCATTCCGCCTTTTTCT	0.582000													29	66					0	0	1	0	0
SIKE1	80143	broad.mit.edu	37	1	115323061	115323061	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:115323061C>T	ENST00000369528.5	-	1	245	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SIKE1_ENST00000060969.5_Intron|SIKE1_ENST00000506320.1_Intron	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	53						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTCCTACCCTCTGCCTGACCT	0.652000													23	139					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307518	43307518	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:43307518G>C	ENST00000361428.2	-	10	4295	c.4218C>G	c.(4216-4218)atC>atG	p.I1406M	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1406					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATGCTTTGGAGATGATGTCTG	0.443000													15	86					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192255115	192255115	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:192255115G>T	ENST00000392318.3	+	18	2126	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L	MYO1B_ENST00000392316.1_Missense_Mutation_p.V627L|MYO1B_ENST00000339514.4_Missense_Mutation_p.V627L|MYO1B_ENST00000304164.4_Missense_Mutation_p.V627L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	627	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAACGTCCGAGTGCGGAGGGC	0.483000													26	94					3.73808e-20	4.96562e-20	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950683	26950683	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:26950683G>T	ENST00000302909.3	+	2	557	c.432G>T	c.(430-432)aaG>aaT	p.K144N		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	144					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCGCGCCAAGAAGGGGCTGG	0.652000													26	143					1.2476e-16	1.59514e-16	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129468150	129468150	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:129468150G>T	ENST00000421865.2	+	6	915	c.866G>T	c.(865-867)tGc>tTc	p.C289F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	289	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGTGCATCTGCTATGGTCAT	0.418000													22	108					4.4004e-07	4.87723e-07	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541888	133541888	+	Silent	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:133541888A>G	ENST00000409261.1	-	14	2869	c.2496T>C	c.(2494-2496)acT>acC	p.T832T	NCKAP5_ENST00000317721.6_Silent_p.T832T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	832							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						ATTTTTCAAGAGTCACCAGGC	0.483000													53	149					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641221	21641221	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:21641221C>G	ENST00000328843.6	+	18	3664	c.3633C>G	c.(3631-3633)gtC>gtG	p.V1211V	DNAH11_ENST00000409508.3_Silent_p.V1211V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1211	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGAGCAGGTCTATATTCAGC	0.388000									Kartagener syndrome				7	18					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192669	132192669	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:132192669C>T	ENST00000359827.3	-	2	1746	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PLXNA4_ENST00000423507.2_Missense_Mutation_p.E262K|PLXNA4_ENST00000378539.5_Missense_Mutation_p.E262K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.E262K			Q9HCM2	PLXA4_HUMAN	plexin A4	262	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACACCATCTCAGGTTGGAGG	0.488000													10	49					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549168	119549168	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:119549168G>A	ENST00000264025.3	-	2	917	c.387C>T	c.(385-387)ttC>ttT	p.F129F	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Silent_p.F129F|PVRL1_ENST00000341398.2_Silent_p.F129F	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	129	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGCCCGTAGGGAAGGTAGCAA	0.612000													34	140					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654475	150654475	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:150654475C>A	ENST00000392968.2	-	3	1864	c.744G>T	c.(742-744)aaG>aaT	p.K248N	KCNH2_ENST00000430723.3_Missense_Mutation_p.K344N|KCNH2_ENST00000262186.5_Missense_Mutation_p.K344N			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	344					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGGGTCGCCCTTGAGGTCCA	0.562000													5	39					0.00116845	0.00120897	1	1	0
VARS	7407	broad.mit.edu	37	6	31752074	31752074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:31752074C>A	ENST00000375663.3	-	13	2028	c.1588G>T	c.(1588-1590)Gag>Tag	p.E530*	VARS_ENST00000444930.2_Nonsense_Mutation_p.E235*	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	530					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCACCACCTCCTCGTCGCTA	0.602000													120	209					4.94481e-55	7.29996e-55	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14850265	14850265	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:14850265G>A	ENST00000358984.4	+	35	3271	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1116										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATATTAAAAGAAAAAATTAG	0.284000													4	16					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462025	5462025	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:5462025G>C	ENST00000380211.1	-	1	719	c.720C>G	c.(718-720)ctC>ctG	p.L240L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGGTGTTGAGTGCCTTGA	0.493000													10	25					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468736	10468736	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:10468736G>T	ENST00000382483.3	-	4	3095	c.2872C>A	c.(2872-2874)Cgc>Agc	p.R958S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	958					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCCATTCGCGGACCACAGCC	0.637000													35	95					1.36615e-20	1.81814e-20	1	1	0
YJEFN3	374887	broad.mit.edu	37	19	19646177	19646177	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:19646177G>T	ENST00000555938.1	+	6	470	c.458G>T	c.(457-459)cGc>cTc	p.R153L	YJEFN3_ENST00000436027.4_Missense_Mutation_p.R104L|YJEFN3_ENST00000514277.3_Missense_Mutation_p.R154L														p.R154H(1)									TACCCCACACGCTCGCTGGAC	0.627000													16	34					2.32078e-09	2.71517e-09	1	1	0
OR51S1	119692	broad.mit.edu	37	11	4870246	4870246	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:4870246G>A	ENST00000322101.2	-	1	268	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCATTGGGCGGTGCAGGGCG	0.567000													26	43					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951365	119951365	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:119951365G>T	ENST00000307142.4	+	4	1631	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	SYNPO2_ENST00000434046.2_Missense_Mutation_p.D479Y|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D479Y|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	479						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAACAGAGGGGACAAGATGGA	0.473000													15	26					3.27435e-08	3.72133e-08	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149428770	149428770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:149428770C>T	ENST00000255992.10	+	17	2551	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonsense_Mutation_p.Q658*|KRBA1_ENST00000319551.8_Nonsense_Mutation_p.Q658*	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	719	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTACAGCTCAGGATCCCTG	0.522000													6	23					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075322	226075322	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:226075322C>T	ENST00000272134.5	-	3	593	c.514G>A	c.(514-516)Gag>Aag	p.E172K	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280Q	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGCCGCTCTCGTGGACGGAC	0.711000													6	39					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42037843	42037843	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:42037843G>C	ENST00000220809.4	-	11	1395	c.1139C>G	c.(1138-1140)cCt>cGt	p.P380R	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.P317R|PLAT_ENST00000429089.2_Missense_Mutation_p.P380R|PLAT_ENST00000352041.3_Missense_Mutation_p.P334R|PLAT_ENST00000429710.2_Missense_Mutation_p.P254R|PLAT_ENST00000524009.1_Missense_Mutation_p.P291R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	380	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCCTCGCCAGGGACCACCCG	0.478000													52	223					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222933	44222933	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:44222933C>G	ENST00000244314.5	+	2	422	c.223C>G	c.(223-225)Cgt>Ggt	p.R75G		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	75						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAATGCCCTGCGTGGCCTGGA	0.677000													74	99					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933638	209933638	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:209933638G>A	ENST00000367024.1	+	3	770	c.254G>A	c.(253-255)aGg>aAg	p.R85K	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R85K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R85K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	85						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCCCAGGCCAGGGAGCAAGGG	0.602000													14	36					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890737	15890737	+	RNA	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:15890737G>A	ENST00000587443.2	-	0	60					NR_033864.1																						AGGGCAGACAGGATGGAGGGT	0.672000													3	19					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027781	86027781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:86027781C>T	ENST00000414626.2	+	5	1721	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.Q298*			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	298					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATAAAACTTCAGAAATTAGA	0.313000													9	25					0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85628669	85628669	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:85628669G>A	ENST00000263867.4	-	4	583	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	CAPG_ENST00000409921.1_Missense_Mutation_p.R112W|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.R112W|CAPG_ENST00000409670.1_Missense_Mutation_p.R112W	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	112					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTGAGGCCCCGTGGGAAGTAG	0.632000													25	140					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417510	40417510	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:40417510C>A	ENST00000333407.5	+	4	1090	c.996C>A	c.(994-996)ggC>ggA	p.G332G	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	332										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGGTGTCAGGCTGCCGCCACC	0.687000													19	66					1.40151e-16	1.78874e-16	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55359140	55359140	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:55359140G>A	ENST00000536015.1	-	12	1238	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L373L|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	373					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCCATCATAGAGGTACCAAG	0.463000													17	54					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898882	103898882	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:103898882C>G	ENST00000278070.2	+	5	656	c.617C>G	c.(616-618)tCt>tGt	p.S206C	PPRC1_ENST00000413464.2_Missense_Mutation_p.S206C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGATCCCTCTTGGGACTTC	0.537000													57	190					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173339729	173339729	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:173339729C>T	ENST00000375221.2	+	8	1379	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	ITGA6_ENST00000264106.6_Silent_p.V392V|ITGA6_ENST00000264107.7_Silent_p.V353V|ITGA6_ENST00000409532.1_Silent_p.V234V|ITGA6_ENST00000409080.1_Silent_p.V353V|ITGA6_ENST00000343713.4_Silent_p.V348V			P23229	ITA6_HUMAN	integrin, alpha 6	392					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGTGTATGTCTACATGAACC	0.398000													13	38					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054716	29054716	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:29054716A>G	ENST00000377173.2	-	1	374	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGGGCCAGGAAGATGATGAGG	0.468000													8	109					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17985497	17985497	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:17985497C>T	ENST00000222248.3	+	4	847	c.500C>T	c.(499-501)tCg>tTg	p.S167L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	167					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTGGGCGTCGCTCCTGTCC	0.602000													10	56					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656807	25656807	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:25656807C>T	ENST00000376436.1	-	4	1656	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	ZNF337_ENST00000538750.1_Missense_Mutation_p.E341K|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.E373K|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGGGCTTCTCCCCTGAGTGT	0.507000													44	88					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95912420	95912420	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:95912420C>A	ENST00000334258.5	-	8	1472	c.1458G>T	c.(1456-1458)ctG>ctT	p.L486L	SYNE3_ENST00000554873.1_Silent_p.L243L|SYNE3_ENST00000553340.1_Silent_p.L486L|SYNE3_ENST00000557275.1_Silent_p.L486L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AGCTTTCCATCAGGGCTGCCT	0.587000													41	125					5.59293e-11	6.63003e-11	1	1	0
KCTD16	57528	broad.mit.edu	37	5	143586314	143586314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:143586314C>T	ENST00000507359.2	+	2	1128	c.37C>T	c.(37-39)Cga>Tga	p.R13*	KCTD16_ENST00000512467.1_Nonsense_Mutation_p.R13*	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	13						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTATTATCCTCGAGAACAAGG	0.458000													19	70					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154173449	154173449	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:154173449G>C	ENST00000336314.4	+	6	751	c.727G>C	c.(727-729)Gat>Cat	p.D243H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	320							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCACGACCAGGATGAGACATC	0.701000													65	110					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420067	216420067	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:216420067G>A	ENST00000366943.2	-	13	3055	c.2669C>T	c.(2668-2670)aCc>aTc	p.T890I	USH2A_ENST00000307340.3_Missense_Mutation_p.T890I|USH2A_ENST00000366942.3_Missense_Mutation_p.T890I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	890	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGTCAATGGTCAAATTGTA	0.473000										HNSCC(13;0.011)			66	142					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104054472	104054472	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:104054472C>T	ENST00000388887.2	+	17	2004	c.1800C>T	c.(1798-1800)gcC>gcT	p.A600A		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	600	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGAAGTGGCCACTCTCATCT	0.473000													14	63					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149640	34149640	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:34149640G>T	ENST00000346193.3	-	1	807	c.756C>A	c.(754-756)ccC>ccA	p.P252P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	252	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACGAGTGATGGGAGGCCCCG	0.632000													4	33					0.00024832	0.000261851	1	1	0
GDA	9615	broad.mit.edu	37	9	74825638	74825638	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:74825638T>C	ENST00000358399.3	+	4	513	c.420T>C	c.(418-420)tgT>tgC	p.C140C	GDA_ENST00000376986.1_Silent_p.C98C|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Silent_p.C140C|GDA_ENST00000545168.1_Silent_p.C66C|GDA_ENST00000376989.3_Silent_p.C115C	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	140					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCACAGCTTGTTACTTTGCAA	0.428000													21	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009282	9009282	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:9009282C>G	ENST00000397910.4	-	40	39394	c.39191G>C	c.(39190-39192)aGa>aCa	p.R13064T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13066	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGATCAGTCTGCAGCCAGA	0.522000													16	49					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476743	120476743	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:120476743C>T	ENST00000355622.6	+	3	2438	c.2337C>T	c.(2335-2337)ctC>ctT	p.L779L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L739L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	779	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGACCCTGCTCAGGCAGCAGG	0.537000													65	90					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60584122	60584122	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:60584122C>A	ENST00000252996.3	-	5	1869	c.1870G>T	c.(1870-1872)Gtg>Ttg	p.V624L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	624	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AAATTCTGCACGAGCTCTTTC	0.448000													45	154					3.05275e-18	3.97412e-18	1	1	0
WSCD1	23302	broad.mit.edu	37	17	6023850	6023850	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:6023850C>A	ENST00000574946.1	+	9	1987	c.1597C>A	c.(1597-1599)Cgg>Agg	p.R533R	WSCD1_ENST00000539421.1_Silent_p.R533R|WSCD1_ENST00000317744.5_Silent_p.R533R|WSCD1_ENST00000574232.1_Silent_p.R533R|WSCD1_ENST00000573634.1_Silent_p.R417R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	533						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCGGCGCGGCCGGCGCTCCCA	0.632000													4	133					1	1	1	1	0
CFH	3075	broad.mit.edu	37	1	196694367	196694367	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:196694367G>C	ENST00000367429.4	+	12	2053	c.1813G>C	c.(1813-1815)Gga>Cga	p.G605R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	605	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TACAATAGTTGGACCTAATTC	0.378000													21	65					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49938099	49938099	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:49938099G>A	ENST00000257981.6	+	7	1383	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	375					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCACTGGGTCGCCTGCGTCTG	0.647000													11	26					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849492	224849492	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:224849492C>A	ENST00000409840.3	-	6	1521	c.861G>T	c.(859-861)aaG>aaT	p.K287N	SERPINE2_ENST00000409304.1_Missense_Mutation_p.K287N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.K299N|SERPINE2_ENST00000258405.4_Missense_Mutation_p.K287N			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	287					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCTGCACCCTCTTGGGCACCA	0.527000													8	18					5.18039e-06	5.63702e-06	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125526498	125526498	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:125526498T>G	ENST00000241305.3	-	10	1624	c.1470A>C	c.(1468-1470)gaA>gaC	p.E490D	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	490					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGTGGCATTTTCCGACAGAA	0.463000													10	65					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115453118	115453118	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:115453118G>A	ENST00000369522.3	+	17	1661	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	SYCP1_ENST00000369518.1_Missense_Mutation_p.R474K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	474					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCAAGCCAGAGAGGTTTGT	0.264000													30	58					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	734					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACTGGTGGGCTGCATTGCTA	0.378000													23	61					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136312	55136312	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:55136312A>G	ENST00000314706.3	+	1	953	c.953A>G	c.(952-954)aAg>aGg	p.K318R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATACCCTGAAGAATGCAGAA	0.378000													28	195					0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20871058	20871058	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:20871058C>T	ENST00000272224.3	+	2	1802	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	409					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCAGACGCGGCGCCGGCC	0.607000													20	64					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43499270	43499270	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:43499270G>C	ENST00000265351.7	-	22	2697	c.2487C>G	c.(2485-2487)ttC>ttG	p.F829L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	829					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGACGGTTTTGAAGACAGGAG	0.443000													8	161					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73161801	73161801	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:73161801G>C	ENST00000545377.1	+	18	2291	c.2115G>C	c.(2113-2115)gaG>gaC	p.E705D	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E705D|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E392D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E705D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E705D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E705D|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E705D	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AATTCCAAGAGAAATATAACA	0.284000													3	19					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115612494	115612494	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:115612494G>A	ENST00000361384.2	-	1	1365	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R150C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	150	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTTCAGAGCGTGGTGGAGAA	0.398000								Other identified genes with known or suspected DNA repair function					8	42					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841226	841226	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:841226G>T	ENST00000317063.6	+	9	1545	c.1545G>T	c.(1543-1545)agG>agT	p.R515S	CHTF18_ENST00000455171.2_Missense_Mutation_p.R348S|CHTF18_ENST00000262315.9_Missense_Mutation_p.R320S|CHTF18_ENST00000491530.1_3'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	320					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GCCACGAGAGGCCTTCCCGGA	0.642000													9	13					2.17888e-05	2.33544e-05	1	1	0
LILRB4	11006	broad.mit.edu	37	19	55175213	55175213	+	Splice_Site	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:55175213G>T	ENST00000391736.1	+	5	387	c.70_splice	c.e5-1	p.G24_splice	LILRB4_ENST00000391733.3_Splice_Site_p.G24_splice|LILRB4_ENST00000270452.2_Splice_Site_p.G24_splice|LILRB4_ENST00000391734.3_Splice_Site_p.G24_splice|LILRB4_ENST00000430952.2_Splice_Site_p.G24_splice	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	24						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TTCTTCCAGGGCCCCTCCCCA	0.627000													20	65					4.96729e-08	5.58333e-08	1	1	0
C2orf53	339779	broad.mit.edu	37	2	27359964	27359964	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:27359964C>A	ENST00000335524.3	-	3	1759	c.1234G>T	c.(1234-1236)Gtc>Ttc	p.V412F		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	412										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACTAGACTGATGACTTT	0.607000													27	44					1.1804e-14	1.46476e-14	1	1	0
CDH13	1012	broad.mit.edu	37	16	83711945	83711945	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:83711945G>A	ENST00000566620.1	+	10	1707	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	CDH13_ENST00000268613.10_Missense_Mutation_p.E520K|CDH13_ENST00000428848.3_Missense_Mutation_p.E434K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	473	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGATGTCAACGAGGGCCCAGT	0.602000													21	95					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352023	173352023	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:173352023G>C	ENST00000375221.2	+	16	2322	c.2119G>C	c.(2119-2121)Gat>Cat	p.D707H	ITGA6_ENST00000264106.6_Missense_Mutation_p.D707H|ITGA6_ENST00000264107.7_Missense_Mutation_p.D668H|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.D549H|ITGA6_ENST00000409080.1_Missense_Mutation_p.D668H|ITGA6_ENST00000343713.4_Missense_Mutation_p.D663H			P23229	ITA6_HUMAN	integrin, alpha 6	707					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGTTCTAAAAGATCAGAAGGA	0.373000													10	54					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132630289	132630289	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:132630289C>T	ENST00000315480.4	+	11	854	c.696C>T	c.(694-696)acC>acT	p.T232T	USP20_ENST00000372429.3_Silent_p.T232T|USP20_ENST00000358355.1_Silent_p.T232T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	232					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TCTAGGACACCCAAGAGTTCC	0.637000													17	70					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9371238	9371238	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:9371238G>A	ENST00000378501.2	+	14	1314	c.1299G>A	c.(1297-1299)ttG>ttA	p.L433L	PLCB4_ENST00000278655.4_Silent_p.L433L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L433L|PLCB4_ENST00000334005.3_Silent_p.L433L|PLCB4_ENST00000414679.2_Silent_p.L433L|PLCB4_ENST00000378473.3_Silent_p.L433L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	433	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCTCCTGTTGAAACAAGCAC	0.343000													20	28					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3189270	3189270	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:3189270G>C	ENST00000251607.6	+	7	1041	c.939G>C	c.(937-939)ttG>ttC	p.L313F	TRNT1_ENST00000280591.6_Missense_Mutation_p.L293F	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	313					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATTTGAGGTTGAAGATCGCAA	0.338000													24	79					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229109	90229109	+	RNA	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:90229109C>T	ENST00000390278.2	+	0	65																											TCCTGCTGCTCTGGCTCCCAG	0.532000													49	195					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100363631	100363631	+	Splice_Site	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:100363631G>T	ENST00000262233.6	+	7	966	c.827_splice	c.e7+1	p.C276_splice	EML1_ENST00000334192.4_Splice_Site_p.C295_splice|EML1_ENST00000327921.9_Splice_Site_p.C264_splice	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	276						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GACGTGAAGTGGTAAGTCCTG	0.547000													11	31					0.00010058	0.000106531	1	1	0
ZNF599	148103	broad.mit.edu	37	19	35250532	35250532	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:35250532C>T	ENST00000329285.7	-	4	1547	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAGGGTTTCTCTCCAGTGTGA	0.458000													14	81					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103759	125103759	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:125103759C>A	ENST00000522917.1	+	34	4693	c.4487C>A	c.(4486-4488)cCt>cAt	p.P1496H	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1496H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1496						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACTTTCACCCTGGGAAAATA	0.458000													45	55					1.00953e-15	1.26811e-15	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129559126	129559126	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:129559126T>C	ENST00000422113.2	-	9	2920	c.2594A>G	c.(2593-2595)aAg>aGg	p.K865R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K403R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	865						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGCCTTTCTTCTTCTGCAG	0.562000													13	73					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	865594	865594	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:865594C>T	ENST00000323510.4	-	12	1339	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	BRD9_ENST00000467963.1_Missense_Mutation_p.G543D|BRD9_ENST00000483173.1_Missense_Mutation_p.G490D|BRD9_ENST00000388890.4_Missense_Mutation_p.G427D			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	543							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGGCCGAGAGCCGCCGCGCTC	0.642000													6	409					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215813997	215813997	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:215813997C>T	ENST00000366943.2	-	68	15257	c.14871G>A	c.(14869-14871)ctG>ctA	p.L4957L	USH2A_ENST00000307340.3_Silent_p.L4957L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4957	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGGCCGTTCAGGAGGAAGG	0.547000										HNSCC(13;0.011)			9	65					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574136	28574136	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:28574136G>T	ENST00000220562.4	+	3	1462	c.560G>T	c.(559-561)cGt>cTt	p.R187L	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	187						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATTATTCTCGTTGCCCTCTC	0.592000													24	87					4.72057e-08	5.32272e-08	1	1	0
KCNJ15	3772	broad.mit.edu	37	21	39671979	39671979	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:39671979G>T	ENST00000398930.1	+	4	1150	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	KCNJ15_ENST00000398932.1_Missense_Mutation_p.D266Y|KCNJ15_ENST00000328656.3_Missense_Mutation_p.D266Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.D266Y|KCNJ15_ENST00000398938.2_Missense_Mutation_p.D266Y			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	266					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCCCCTGAGAGACCTCACACC	0.547000													29	78					1.2476e-16	1.59514e-16	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49967389	49967389	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:49967389G>T	ENST00000293350.4	+	10	1363	c.1200G>T	c.(1198-1200)ccG>ccT	p.P400P	ALDH16A1_ENST00000540132.1_Silent_p.P237P|ALDH16A1_ENST00000455361.2_Silent_p.P349P|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.P235P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	400							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGCAGGTGCCGTGGCCTGTGG	0.711000													9	30					4.68919e-08	5.30404e-08	1	1	0
PTBP1	5725	broad.mit.edu	37	19	804148	804148	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:804148C>G	ENST00000356948.6	+	4	651	c.228C>G	c.(226-228)atC>atG	p.I76M	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.I76M|PTBP1_ENST00000394601.4_Missense_Mutation_p.I76M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	76	RRM 1.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAAGTCATCTCCCTGGGGC	0.592000													16	31					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200816816	200816816	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:200816816G>C	ENST00000358823.2	+	10	1511	c.1241G>C	c.(1240-1242)gGg>gCg	p.G414A	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.G425A|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G398A	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	425						cytoplasm|microtubule	protein binding										GGCTTCATAGGGACATGGCCC	0.308000													31	86					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432536	104432536	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:104432536A>T	ENST00000361820.3	-	3	2758	c.2158T>A	c.(2158-2160)Ttg>Atg	p.L720M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	720					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAGATGTTCAAGGCTGAAGAA	0.448000													77	76					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122667726	122667726	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:122667726C>G	ENST00000284273.5	+	9	1717	c.1342C>G	c.(1342-1344)Caa>Gaa	p.Q448E		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	448	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TGGATGCATGCAAGCAAGACT	0.488000													22	103					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352740	117352740	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:117352740G>A	ENST00000321322.6	-	12	2678	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R623C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	833	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCATGACGCGGTCAGGGTCG	0.637000													9	105					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982309	57982309	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:57982309C>T	ENST00000309433.6	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGGGATTTTTCAAGCAGGATG	0.433000													82	128					0	0	1	0	0
GLIPR2	152007	broad.mit.edu	37	9	36148589	36148589	+	Silent	SNP	G	G	A	rs138525625		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:36148589G>A	ENST00000377960.4	+	3	202	c.168G>A	c.(166-168)ccG>ccA	p.P56P	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.P56P|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	56						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGCACAGCCCGGAGTCCAGCC	0.607000													30	18					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109921434	109921434	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:109921434G>A	ENST00000342494.3	+	3	673	c.78G>A	c.(76-78)caG>caA	p.Q26Q	UBE3B_ENST00000536398.1_Silent_p.Q26Q|UBE3B_ENST00000340074.5_Silent_p.Q26Q|UBE3B_ENST00000280774.5_Silent_p.Q26Q|UBE3B_ENST00000434735.2_Silent_p.Q26Q|UBE3B_ENST00000540230.1_Silent_p.Q26Q|UBE3B_ENST00000537063.1_Silent_p.Q26Q	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	26					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGCTTGTGCAGAAGGAACGGG	0.537000													36	118					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273388	26273388	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:26273388C>T	ENST00000381655.2	+	25	2431	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.I723I	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	723					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGCCCTGATCATCGATGGCC	0.537000													22	53					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737505	164737505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:164737505G>T	ENST00000264382.3	-	28	3370	c.3308C>A	c.(3307-3309)tCg>tAg	p.S1103*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1103	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGCGAGTCGATATTTGAAT	0.378000										HNSCC(35;0.089)			25	43					2.65835e-16	3.38077e-16	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965879	35965879	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:35965879G>C	ENST00000274278.3	-	4	809	c.452C>G	c.(451-453)tCt>tGt	p.S151C	UGT3A1_ENST00000333811.4_Missense_Mutation_p.S97C|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S117C|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S151C|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	151						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)			AATCAGGAAAGAACAGAAATC	0.398000													8	116					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34573101	34573101	+	Silent	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:34573101T>G	ENST00000374789.3	-	21	3472	c.3147A>C	c.(3145-3147)tcA>tcC	p.S1049S	PARD3_ENST00000545260.1_Silent_p.S959S|PARD3_ENST00000374790.3_Silent_p.S989S|PARD3_ENST00000350537.4_Silent_p.S1003S|PARD3_ENST00000374788.3_Silent_p.S1046S|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000545693.1_Silent_p.S1033S|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000466092.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTCCTCTTCTGATGTAAAGG	0.343000													69	73					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248439	48248439	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:48248439C>A	ENST00000400384.2	+	4	1859	c.823C>A	c.(823-825)Cgc>Agc	p.R275S	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.R64S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	275	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GAGGCCTCTGCGCAAGCTGCT	0.607000													20	37					2.21704e-12	2.69507e-12	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367792	145367792	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:145367792G>T	ENST00000342960.5	+	83	10423	c.10388G>T	c.(10387-10389)gGg>gTg	p.G3463V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3463										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		agaaaagaaggggaagaagaT	0.433000													26	90					9.57634e-11	1.13333e-10	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55135585	55135585	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:55135585A>G	ENST00000314706.3	+	1	226	c.226A>G	c.(226-228)Acc>Gcc	p.T76A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATCATAGTGACCATCATGGC	0.438000													14	110					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35685020	35685020	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:35685020G>C	ENST00000400445.3	+	13	2441	c.1907G>C	c.(1906-1908)aGa>aCa	p.R636T	NBEA_ENST00000379939.2_Missense_Mutation_p.R636T|NBEA_ENST00000310336.4_Missense_Mutation_p.R636T|NBEA_ENST00000540320.1_Missense_Mutation_p.R636T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	636						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCATACGCAGAGTAGGAACA	0.368000													7	14					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220246111	220246111	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:220246111C>T	ENST00000273075.4	-	13	1405	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.A403A|DNPEP_ENST00000373972.1_Silent_p.A320A	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	385					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CCTCTGACACCGCGTTTGAAG	0.592000													57	233					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179608977	179608977	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:179608977C>T	ENST00000444136.1	+	10	1774	c.1524C>T	c.(1522-1524)cgC>cgT	p.R508R	TDRD5_ENST00000294848.8_Silent_p.R508R|TDRD5_ENST00000367614.1_Silent_p.R508R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	508					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCCACAGGCGCTGTTATTCTA	0.373000													16	175					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131575	150131575	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:150131575T>C	ENST00000369124.4	+	6	1365	c.1087T>C	c.(1087-1089)Tca>Cca	p.S363P	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S329P|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S180P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	363	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGAGGCATCATCGAATTG	0.622000													42	48					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890044	23890044	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:23890044G>A	ENST00000532292.1	-	1	1131	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGGTGCTAGGGCCCTCCCA	0.647000													48	43					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564104	139564104	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:139564104G>C	ENST00000358430.3	-	10	1846	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	538						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGCTCCTTGAGAGCGGCGT	0.562000													49	91					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943279	6943279	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:6943279G>A	ENST00000389658.3	-	62	9060	c.8967C>T	c.(8965-8967)atC>atT	p.I2989I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2989	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATCAGAGTGATACGGTGTT	0.498000													25	92					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462137	48462137	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:48462137G>C	ENST00000358536.4	-	10	2234	c.1965C>G	c.(1963-1965)gtC>gtG	p.V655V	PLXNB1_ENST00000358459.4_Silent_p.V655V|PLXNB1_ENST00000296440.6_Silent_p.V655V|PLXNB1_ENST00000456774.1_Silent_p.V655V|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	655					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGCTGCCAGACACACCAGT	0.652000													7	37					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298876	43298876	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:43298876C>G	ENST00000269844.3	-	3	451	c.341G>C	c.(340-342)cGg>cCg	p.R114P	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCTGTACCCGAGGGCGGGG	0.766000													12	26					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30921948	30921948	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:30921948C>A	ENST00000543491.1	+	2	3348	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGAAAGGACCACGCCGGATG	0.517000													10	44					0.000442599	0.000463984	1	1	0
TMIGD1	388364	broad.mit.edu	37	17	28651904	28651904	+	Silent	SNP	G	G	A	rs143426056		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:28651904G>A	ENST00000328886.4	-	4	642	c.570C>T	c.(568-570)aaC>aaT	p.N190N	TMIGD1_ENST00000538566.2_Silent_p.N190N	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	190	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TGTAGGTTCCGTTGTCAGGCT	0.418000													36	98					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59780478	59780478	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:59780478G>C	ENST00000357637.5	-	16	1738	c.1323C>G	c.(1321-1323)ttC>ttG	p.F441L	PIGN_ENST00000400334.3_Missense_Mutation_p.F441L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	441					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CGCCCAAAAAGAATCTGTCAT	0.358000													9	50					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517580	20517580	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:20517580G>T	ENST00000375099.3	+	2	610	c.526G>T	c.(526-528)Gtc>Ttc	p.V176F		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	176										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GAAATTCATCGTCCGAACCAA	0.527000													56	68					2.23044e-30	3.15611e-30	1	1	0
OR6C68	403284	broad.mit.edu	37	12	55886384	55886384	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:55886384T>A	ENST00000379662.1	+	1	238	c.238T>A	c.(238-240)Tgt>Agt	p.C80S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.C75S			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TACAGCTACCTGTGTTCCAAG	0.373000													22	59					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37953814	37953814	+	Splice_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:37953814C>A	ENST00000436072.2	-	3	970		c.e3+1		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGACGACTTACCATAGCTGTA	0.393000													14	69					4.7546e-09	5.50857e-09	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123302238	123302238	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:123302238G>T	ENST00000296513.2	+	4	449	c.264G>T	c.(262-264)atG>atT	p.M88I	ADAD1_ENST00000388725.2_Missense_Mutation_p.M70I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.M88I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	88					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATTTATAATGAAATACAAAC	0.388000													21	84					2.37509e-13	2.91692e-13	1	1	0
C9orf96	169436	broad.mit.edu	37	9	136269152	136269152	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:136269152C>A	ENST00000371957.3	+	16	1819	c.1712C>A	c.(1711-1713)gCc>gAc	p.A571D	C9orf96_ENST00000371955.1_Missense_Mutation_p.A104D	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	571							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGGGGACTGGCCAGCCTGGTG	0.612000											OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	82					3.83957e-06	4.21646e-06	1	1	0
USP24	23358	broad.mit.edu	37	1	55562208	55562208	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:55562208G>A	ENST00000294383.6	-	50	6023	c.6024C>T	c.(6022-6024)tgC>tgT	p.C2008C	USP24_ENST00000407756.1_Silent_p.C1848C	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2008					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCTCCAAAGCATTCATACT	0.308000													22	39					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183602624	183602624	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:183602624C>A	ENST00000317096.4	-	1	71	c.11G>T	c.(10-12)cGa>cTa	p.R4L	PARL_ENST00000435888.1_Missense_Mutation_p.R4L|PARL_ENST00000311101.5_Missense_Mutation_p.R4L	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	4					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCCAGCCTCGCCACGCCAT	0.697000											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0.00909568	0.00930358	1	1	0
LDHC	3948	broad.mit.edu	37	11	18472599	18472599	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:18472599G>A	ENST00000541669.1	+	8	1035	c.924G>A	c.(922-924)ttG>ttA	p.L308L	LDHC_ENST00000280704.4_Silent_p.L308L|LDHC_ENST00000536880.1_Silent_p.L294L|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000535809.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	308					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AAATTAACTTGAATTCTGAGG	0.373000													45	68					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862876	10862876	+	RNA	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:10862876C>A	ENST00000559480.1	+	0	172																		p.Q58K(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGGGTGCACCAGGTCCATGC	0.562000													10	294					2.80697e-09	3.27328e-09	1	1	0
METTL18	92342	broad.mit.edu	37	1	169762216	169762216	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:169762216C>A	ENST00000310392.4	-	2	974	c.621G>T	c.(619-621)aaG>aaT	p.K207N	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.K207N	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	207						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TGGACCCTCCCTTGAATGCAG	0.388000													65	152					3.07281e-33	4.40027e-33	1	1	0
TMEM186	25880	broad.mit.edu	37	16	8890052	8890052	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:8890052C>T	ENST00000333050.6	-	2	432	c.399G>A	c.(397-399)ctG>ctA	p.L133L	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	133						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGACTCATTCAGATACAGGA	0.542000													36	89					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054788	29054788	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:29054788G>C	ENST00000377173.2	-	1	302	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACCAACATATGAGGGACTGTA	0.448000													27	116					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419772	179419772	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:179419772T>C	ENST00000589042.1	-	331	88638	c.88414A>G	c.(88414-88416)Att>Gtt	p.I29472V	TTN_ENST00000359218.5_Missense_Mutation_p.I20532V|TTN_ENST00000342992.6_Missense_Mutation_p.I26904V|TTN_ENST00000342175.6_Missense_Mutation_p.I20599V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I27831V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I20407V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27831							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)			TACCACTCAATAGTAGGCGCA	0.413000													12	46					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50760613	50760613	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:50760613G>T	ENST00000440075.2	+	18	2149	c.2102G>T	c.(2101-2103)gGc>gTc	p.G701V	MYH14_ENST00000601313.1_Missense_Mutation_p.G701V|MYH14_ENST00000262269.8_Missense_Mutation_p.G701V|MYH14_ENST00000598205.1_Missense_Mutation_p.G668V|MYH14_ENST00000596571.1_Missense_Mutation_p.G660V|MYH14_ENST00000425460.1_Missense_Mutation_p.G668V|MYH14_ENST00000376970.2_Missense_Mutation_p.G693V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	660	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACCAGGTGGCCGCCCCCGT	0.627000													6	11					0.00198382	0.00204966	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856851	19856851	+	RNA	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:19856851C>G	ENST00000548109.1	+	0	72																											GCTCTCATGTCATCTACAGCA	0.333000													6	36					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187792	10187792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:10187792C>T	ENST00000535335.1	+	3	493	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	KLF11_ENST00000540845.1_Nonsense_Mutation_p.Q93*|KLF11_ENST00000305883.1_Nonsense_Mutation_p.Q110*	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	110					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AACTCCTCCTCAGAGCCCTGA	0.423000													21	106					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080401	152080401	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:152080401C>A	ENST00000368804.1	-	2	5291	c.5292G>T	c.(5290-5292)ctG>ctT	p.L1764L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1764	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCGGCGCAGCTGCTGTT	0.587000													70	129					1.15062e-32	1.6444e-32	1	1	0
KCNK16	83795	broad.mit.edu	37	6	39282819	39282819	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:39282819G>A	ENST00000373229.5	-	6	902	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.P185S|KCNK16_ENST00000373227.4_Missense_Mutation_p.P250S	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AAGTCCTGGGGTGTGACTTGG	0.587000													39	94					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898774	28898774	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:28898774T>A	ENST00000395503.4	+	8	843	c.659T>A	c.(658-660)tTg>tAg	p.L220*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.L95*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.L220*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	220					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGCAAGGCCTTGGGCATCGTG	0.607000													27	88					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93617414	93617414	+	Splice_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:93617414C>A	ENST00000394236.3	-	8	1044		c.e8-1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCATCTATATCTGAGGTAAAA	0.358000													20	28					8.00594e-06	8.67209e-06	1	1	0
PES1	23481	broad.mit.edu	37	22	30977610	30977610	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:30977610T>A	ENST00000402281.1	-	9	1226	c.235A>T	c.(235-237)Agg>Tgg	p.R79W	PES1_ENST00000354694.6_Missense_Mutation_p.R218W|PES1_ENST00000405677.1_Missense_Mutation_p.R79W|PES1_ENST00000335214.6_Missense_Mutation_p.R218W|PES1_ENST00000402284.3_Missense_Mutation_p.R201W			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	218	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCATGACCCTGTAGTCCACG	0.577000													17	29					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64410131	64410131	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:64410131C>T	ENST00000301894.2	-	1	656	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	0	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGGCCCCCTCGGCCGCCCCc	0.731000													7	24					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50308021	50308021	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:50308021G>T	ENST00000418948.1	+	0	564							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTTCTGGCTGGGATGAGGGC	0.652000													4	13					0.150653	0.152141	1	1	0
FAM187A	100528020	broad.mit.edu	37	17	42978433	42978433	+	Translation_Start_Site	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:42978433G>A	ENST00000412523.2	+	0	153				CCDC103_ENST00000410027.1_Missense_Mutation_p.D23N|FAM187A_ENST00000331733.4_De_novo_Start_InFrame|CCDC103_ENST00000410006.2_Missense_Mutation_p.D23N|CCDC103_ENST00000417826.2_Missense_Mutation_p.D23N					family with sequence similarity 187, member A																		ACTCACTGCTGATGAGAAGTA	0.502000													18	53					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543007	28543007	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:28543007G>A	ENST00000452236.2	-	3	2092	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	492	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCAGTGTGATGAGTTGTTAGT	0.438000													30	112					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684664	108684664	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:108684664T>C	ENST00000218006.2	-	7	1908	c.1617A>G	c.(1615-1617)caA>caG	p.Q539Q		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	539	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACCTCCCACTTTGGACCTCTG	0.428000													4	225					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014354	168014354	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:168014354C>T	ENST00000367840.3	+	16	2241	c.2147C>T	c.(2146-2148)tCa>tTa	p.S716L	DCAF6_ENST00000367843.3_Missense_Mutation_p.S659L|DCAF6_ENST00000312263.6_Missense_Mutation_p.S639L|DCAF6_ENST00000432587.2_Missense_Mutation_p.S685L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	639					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ACTGGGCCTTCAGCTCATGAA	0.493000													23	67					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739419	26739419	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:26739419C>T	ENST00000272371.2	-	5	502	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	OTOF_ENST00000403946.3_Missense_Mutation_p.G126S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	126					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAGGAGCCCACTGTGCCG	0.622000													29	132					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129058863	129058863	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:129058863G>C	ENST00000394422.3	+	12	1469	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.E427Q|UTP14A_ENST00000371042.3_Missense_Mutation_p.E313Q|UTP14A_ENST00000425117.2_Missense_Mutation_p.E429Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	481					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGCAAGTTCAGAGGGGACTAT	0.517000													39	145					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086232	175086232	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:175086232G>C	ENST00000239462.4	+	10	2390	c.2277G>C	c.(2275-2277)caG>caC	p.Q759H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	759	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAAGGAGCAGAGTAGCACTG	0.647000													29	146					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67700154	67700154	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:67700154C>G	ENST00000243878.4	-	2	421	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	ENKD1_ENST00000602644.1_Missense_Mutation_p.E34Q	NM_032140.1	NP_115516.1			enkurin domain containing 1																		GCGTTTCCCTCGAGGCGCCCT	0.726000													12	39					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81372768	81372768	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:81372768C>G	ENST00000222390.5	-	7	992	c.766G>C	c.(766-768)Gat>Cat	p.D256H	HGF_ENST00000444829.2_Missense_Mutation_p.D256H|HGF_ENST00000453411.1_Missense_Mutation_p.D251H|HGF_ENST00000457544.2_Missense_Mutation_p.D251H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	256	Kringle 2.				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						TAATTATCATCAAAGCCCTTG	0.498000													16	48					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79632692	79632692	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:79632692C>T	ENST00000393350.1	-	1	1919	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	MAF_ENST00000569649.1_Missense_Mutation_p.E370K|MAF_ENST00000326043.4_Missense_Mutation_p.E370K	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	370	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATGAAAAACTCGGGAGAGGAC	0.592000			T	IGH@	MM								8	30					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42144143	42144143	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:42144143G>C	ENST00000401548.3	+	15	1753	c.1713G>C	c.(1711-1713)ttG>ttC	p.L571F	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.L311F	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	571							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCCAGCTTTGATGGAAGTTT	0.493000													16	30					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10659362	10659362	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:10659362C>T	ENST00000356607.4	+	4	317	c.237C>T	c.(235-237)tcC>tcT	p.S79S	PEX14_ENST00000538836.1_Silent_p.S15S	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	79					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTCGTCCTTGGGCCCAG	0.552000													79	99					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548225	99548225	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:99548225G>T	ENST00000550693.2	-	1	299	c.46C>A	c.(46-48)Ccc>Acc	p.P16T	ANKS1B_ENST00000546960.1_Missense_Mutation_p.P16T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P16T|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P16T|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P16T|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P16T|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCGTCCACGGGGTAATAGCGG	0.532000													16	45					4.14922e-12	5.0268e-12	1	1	0
BST2	684	broad.mit.edu	37	19	17516254	17516254	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:17516254A>T	ENST00000252593.6	-	1	203	c.131T>A	c.(130-132)tTc>tAc	p.F44Y	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	44					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CTTGATGGTGAAGATAATCAA	0.577000													47	79					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40715938	40715938	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:40715938C>T	ENST00000298910.7	+	36	5330	c.5272C>T	c.(5272-5274)Cat>Tat	p.H1758Y		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1758					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTAGACAATCATCCAGAGAG	0.348000													12	30					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710887	117710887	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:117710887G>A	ENST00000368508.3	-	12	1583	c.1385C>T	c.(1384-1386)cCa>cTa	p.P462L	ROS1_ENST00000368507.3_Missense_Mutation_p.P471L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	462					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGCTTGTGGCTTGATTGC	0.488000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								40	21					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109697836	109697836	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:109697836A>G	ENST00000277225.5	+	6	6458	c.6169A>G	c.(6169-6171)Aaa>Gaa	p.K2057E	ZNF462_ENST00000457913.1_Missense_Mutation_p.K2117E|ZNF462_ENST00000441147.2_Missense_Mutation_p.K963E|ZNF462_ENST00000542028.1_Missense_Mutation_p.K14E|ZNF462_ENST00000497489.1_3'UTR			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2057					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTCCGATGCAAACTCTGCTC	0.398000													37	41					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813484	106813484	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:106813484C>T	ENST00000407775.2	+	8	1424	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P123S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P260S|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P260S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	392					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CGGCAAACTTCCCAGAGAAAG	0.512000													71	79					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509914	171509914	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:171509914G>T	ENST00000367742.3	+	16	3551	c.3309G>T	c.(3307-3309)caG>caT	p.Q1103H	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1103H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1101H|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1101H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1101							protein C-terminus binding										AACCATCTCAGGATACTGAGA	0.458000													24	76					2.21704e-12	2.69507e-12	1	1	0
C16orf89	146556	broad.mit.edu	37	16	5110325	5110325	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:5110325C>G	ENST00000315997.5	-	3	672	c.471G>C	c.(469-471)gaG>gaC	p.E157D	C16orf89_ENST00000422873.1_Missense_Mutation_p.E195D|C16orf89_ENST00000472572.3_Missense_Mutation_p.E157D|C16orf89_ENST00000350219.4_Missense_Mutation_p.E195D|C16orf89_ENST00000474471.3_Missense_Mutation_p.E157D|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	157						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CGTCACTTCTCTCCTCTGAGA	0.602000													17	56					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503712	51503712	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:51503712G>T	ENST00000600767.1	-	4	687	c.198C>A	c.(196-198)aaC>aaA	p.N66K	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.N111K|KLK8_ENST00000347619.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.N66K|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	66	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TAAGGACCCAGTTGCCACCTA	0.597000													38	85					2.26627e-22	3.07904e-22	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3267014	3267014	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:3267014G>A	ENST00000602557.1	-	14	2233	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	CSMD1_ENST00000400186.3_Silent_p.L560L|CSMD1_ENST00000539096.1_Silent_p.L559L|CSMD1_ENST00000520002.1_Silent_p.L560L|CSMD1_ENST00000542608.1_Silent_p.L559L|CSMD1_ENST00000602723.1_Silent_p.L560L|CSMD1_ENST00000537824.1_Silent_p.L559L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	560	Sushi 3.					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)		TCCCCCACCAGCTCAAAGGCC	0.562000													6	13					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651473	127651473	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:127651473C>T	ENST00000373555.4	-	18	2043	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	570						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CCCGCAGCCTCAGCAGGTCCT	0.647000													9	74					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431289	26431289	+	RNA	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:26431289A>T	ENST00000466808.2	+	0	1447																											CTGGGCCCTGACCTCCCTTAA	0.507000													46	95					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002301	3002301	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:3002301T>C	ENST00000381127.1	+	6	645	c.424T>C	c.(424-426)Ttg>Ctg	p.L142L	ARSF_ENST00000359361.2_Silent_p.L142L|ARSF_ENST00000537104.1_Silent_p.L142L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	142						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GCACCAAGGCTTGAACTGCGA	0.463000													15	42					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115182	66115182	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:66115182G>A	ENST00000503581.1	-	6	1478	c.941C>T	c.(940-942)tCt>tTt	p.S314F	EYS_ENST00000370616.2_Missense_Mutation_p.S314F|EYS_ENST00000370618.3_Missense_Mutation_p.S314F|EYS_ENST00000393380.2_Missense_Mutation_p.S314F|EYS_ENST00000370621.3_Missense_Mutation_p.S314F|EYS_ENST00000342421.5_Missense_Mutation_p.S314F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	314					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AGTATAAGCAGAACTGCTATT	0.393000													40	116					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155740888	155740888	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:155740888G>A	ENST00000437809.1	-	19	2738	c.2616C>T	c.(2614-2616)aaC>aaT	p.N872N	GON4L_ENST00000361040.5_Silent_p.N872N|GON4L_ENST00000271883.5_Silent_p.N872N|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.N872N			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	872					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTGTTCATGTTGAGGTTCT	0.428000													15	168					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23847650	23847650	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:23847650C>A	ENST00000359320.3	+	2	663	c.219C>A	c.(217-219)ttC>ttA	p.F73L	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.F73L|CMTM5_ENST00000382809.2_Missense_Mutation_p.F73L|CMTM5_ENST00000555731.1_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	73	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CACTTGCCTTCCTCTTCCTCT	0.582000													51	104					7.34454e-26	1.02309e-25	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047861	46047861	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:46047861A>T	ENST00000397911.3	+	1	822	c.773A>T	c.(772-774)cAg>cTg	p.Q258L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	258						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTCCCGCCAGCCCAGCTAT	0.692000													91	191					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090523	111090523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:111090523G>A	ENST00000262839.2	-	6	2437	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	507					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGAGATCTGCAGAGGTCCT	0.463000													38	56					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234460105	234460105	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:234460105C>T	ENST00000251722.6	-	7	871	c.754G>A	c.(754-756)Gat>Aat	p.D252N	USP40_ENST00000450966.1_Missense_Mutation_p.D264N|USP40_ENST00000427112.2_Missense_Mutation_p.D252N			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	252					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCACAAAATCAAAATTAAAT	0.338000													4	22					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982254	76982254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:76982254G>T	ENST00000315938.4	-	6	571	c.321C>A	c.(319-321)taC>taA	p.Y107*	GDPD4_ENST00000376217.2_Nonsense_Mutation_p.Y107*	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	107					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.Y107*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCAGGTGCACGTAGGGAGCAA	0.488000													49	34					1.00776e-21	1.35886e-21	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121551134	121551134	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:121551134G>T	ENST00000361976.2	+	4	587	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	INPP5F_ENST00000369083.3_Missense_Mutation_p.V141L|INPP5F_ENST00000369081.1_Missense_Mutation_p.V45L	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	141							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TAAATCCAATGTGTCTGCTCC	0.318000													32	34					3.57733e-08	4.0528e-08	1	1	0
TAPBP	6892	broad.mit.edu	37	6	33272841	33272841	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:33272841G>T	ENST00000434618.2	-	4	1138	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	TAPBP_ENST00000456592.2_Missense_Mutation_p.Q265K|TAPBP_ENST00000475304.1_Missense_Mutation_p.Q283K|TAPBP_ENST00000426633.2_Missense_Mutation_p.Q265K|TAPBP_ENST00000489157.1_Missense_Mutation_p.Q178K	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	265					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GTGCCCTCCTGAAAGGGTTGA	0.577000													34	171					6.00712e-18	7.80599e-18	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780047	37780047	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:37780047C>A	ENST00000447769.1	+	4	341	c.52C>A	c.(52-54)Ccc>Acc	p.P18T	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.P18T|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATAGTGACACCCCACTTAAT	0.493000													105	190					2.09607e-39	3.05037e-39	1	1	0
LHFPL3	375612	broad.mit.edu	37	7	103969248	103969248	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	0						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721000													5	19					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54254606	54254606	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:54254606G>T	ENST00000259782.4	+	11	1410	c.1314G>T	c.(1312-1314)tgG>tgT	p.W438C		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	438					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCAATTCCTGGGGAAAGTCAT	0.393000													35	114					3.09479e-21	4.15735e-21	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119029292	119029292	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:119029292C>G	ENST00000307417.3	+	11	1557	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	ABCG4_ENST00000531739.1_Missense_Mutation_p.S398C|ABCG4_ENST00000449422.2_Missense_Mutation_p.S398C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	398	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGTTCATGTCCCACGTGGTT	0.562000													45	287					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530274	175530274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:175530274G>T	ENST00000253490.4	+	13	766	c.709G>T	c.(709-711)Gag>Tag	p.E237*	FAM153B_ENST00000510151.1_Nonsense_Mutation_p.E160*|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.E160*			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	237										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TTACAACGGCGAGGAGGAGGA	0.448000													57	185					2.67592e-24	3.69164e-24	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54147571	54147571	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:54147571A>C	ENST00000265572.3	-	3	655	c.358T>G	c.(358-360)Ttg>Gtg	p.L120V	OPRK1_ENST00000520287.1_Missense_Mutation_p.L120V|OPRK1_ENST00000524278.1_Missense_Mutation_p.L31V|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	120					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GAATTCATCAAGTAGACCGTA	0.408000													4	109					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628276	71628276	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:71628276T>A	ENST00000377276.2	-	1	763	c.733A>T	c.(733-735)Atc>Ttc	p.I245F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	245	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TAGATCTGGATGGGCTGGTCG	0.602000													28	63					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32928113	32928113	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:32928113C>T	ENST00000342179.5	+	6	679	c.464C>T	c.(463-465)cCa>cTa	p.P155L	DPY19L3_ENST00000586987.1_Missense_Mutation_p.P155L|DPY19L3_ENST00000392250.2_Missense_Mutation_p.P155L	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	155						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TATTTAGAGCCAGTTTATTTT	0.403000													21	42					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526319	35526319	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:35526319C>G	ENST00000262878.4	-	15	1851	c.1652G>C	c.(1651-1653)cGa>cCa	p.R551P		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	551					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACAATATACTCGAATCAGCTG	0.403000													9	164					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43887757	43887757	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:43887757C>G	ENST00000562955.1	+	12	1630	c.1630C>G	c.(1630-1632)Ctc>Gtc	p.L544V		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	544						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCTCAGGTGCTCTCCCTCCA	0.542000													4	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	A	rs11575996		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:7576853C>A	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTTAGTACCTGAAGGGTGA	0.453000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			56	44					4.33383e-22	5.86583e-22	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904063	144904063	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:144904063C>T	ENST00000370490.1	+	1	4375	c.120C>T	c.(118-120)aaC>aaT	p.N40N	SLITRK2_ENST00000428560.2_Silent_p.N40N|SLITRK2_ENST00000434188.2_Silent_p.N40N|SLITRK2_ENST00000413937.2_Silent_p.N40N|SLITRK2_ENST00000447897.2_Silent_p.N40N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	40						integral to membrane		p.N40N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGAAAACGTACTGAATA	0.458000													4	34					0	0	1	0	0
SGK494	124923	broad.mit.edu	37	17	26938788	26938788	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:26938788C>T	ENST00000301037.5	-	8	718	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	RP11-192H23.4_ENST00000534850.1_3'UTR|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron	NM_001174103.1	NP_001167574.1												p.R279Q(1)									AGACTTACCTCGTTCATCTAG	0.428000													63	199					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681390	40681390	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:40681390C>T	ENST00000302472.3	+	2	1319	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	99					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACCTTCATTCTGCTCTTCTT	0.592000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	444					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543433	25543433	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:25543433A>T	ENST00000269141.3	-	15	2825	c.2402T>A	c.(2401-2403)aTc>aAc	p.I801N	CDH2_ENST00000399380.3_Missense_Mutation_p.I770N|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	801					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACAGGCTTGATGGCATCAGG	0.547000													46	36					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671526	84671526	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:84671526G>T	ENST00000284136.6	-	8	980	c.937C>A	c.(937-939)Cct>Act	p.P313T		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	313	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCACTTCCAGGAATTGAGCAA	0.398000													47	220					3.81248e-40	5.55954e-40	1	1	0
ZDHHC11	79844	broad.mit.edu	37	5	825342	825342	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:825342C>T	ENST00000283441.8	-	8	1343	c.960G>A	c.(958-960)ctG>ctA	p.L320L	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L320L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	320						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)			GCTTGTGAATCAGCAGGGAGC	0.552000													30	258					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748096	102748096	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:102748096G>A	ENST00000370228.1	+	1	314	c.129G>A	c.(127-129)gaG>gaA	p.E43E	C10orf2_ENST00000311916.2_Silent_p.E43E|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	43					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGGAAGGAGACTCTCCAAG	0.592000													30	104					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53484215	53484215	+	RNA	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:53484215G>A	ENST00000600068.1	-	0	143				ZNF702P_ENST00000270443.4_RNA																							AGGAGTTTTTGGAAATCAATC	0.408000													7	15					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261405	49261405	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:49261405C>A	ENST00000593756.1	+	4	1130	c.558C>A	c.(556-558)ccC>ccA	p.P186P	FGF21_ENST00000222157.3_Silent_p.P186P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	186					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCAGCCCCCCGATGTGGGCT	0.677000													10	23					6.40141e-05	6.82055e-05	1	1	0
TNR	7143	broad.mit.edu	37	1	175365730	175365730	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:175365730G>A	ENST00000367674.1	-	5	1898	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	TNR_ENST00000263525.2_Missense_Mutation_p.A397V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	397	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTAATGACAGCGTAGACGCT	0.567000													48	52					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104138963	104138963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:104138963C>A	ENST00000388887.2	+	57	6248	c.6044C>A	c.(6043-6045)tCa>tAa	p.S2015*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2015	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGGCTGCTCAGACCACGGA	0.557000													5	32					0.0293803	0.0299663	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39534965	39534965	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:39534965C>A	ENST00000265707.5	+	15	1586	c.1541C>A	c.(1540-1542)cCa>cAa	p.P514Q	ADAM18_ENST00000379866.1_Missense_Mutation_p.P490Q|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	514	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAGGTGCTCCATTTGCCTGT	0.323000													15	32					2.32078e-09	2.71517e-09	1	1	0
CHRND	1144	broad.mit.edu	37	2	233394818	233394818	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:233394818G>T	ENST00000258385.3	+	7	821	c.789G>T	c.(787-789)atG>atT	p.M263I	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.G227C|CHRND_ENST00000543200.1_Missense_Mutation_p.M248I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	263					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)		TCTCCTTCATGGTCAACCTGG	0.632000													29	107					5.77227e-19	7.58339e-19	1	1	0
SLC12A9	56996	broad.mit.edu	37	7	100459371	100459371	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:100459371C>G	ENST00000354161.3	+	12	1674	c.1549C>G	c.(1549-1551)Ctg>Gtg	p.L517V	SLC12A9_ENST00000415287.1_Missense_Mutation_p.L428V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.L517V|SLC12A9_ENST00000428758.1_Missense_Mutation_p.L517V|SLC12A9_ENST00000275729.3_Missense_Mutation_p.L428V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	517						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGTAAGTATCTGCTTCGGCT	0.647000													40	168					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614894	247614894	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:247614894A>T	ENST00000318749.6	-	1	414	c.391T>A	c.(391-393)Tgc>Agc	p.C131S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGCTTGCAGATGGCCACG	0.617000													57	81					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26696867	26696867	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:26696867G>A	ENST00000226218.4	-	3	808	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	64					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ACATCCCCGCGAGTCACTGCA	0.602000													20	53					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77724985	77724985	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:77724985C>T	ENST00000407578.2	-	47	7281	c.7015G>A	c.(7015-7017)Gct>Act	p.A2339T	MYCBP2_ENST00000544440.2_Missense_Mutation_p.A2301T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2301T|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAGATGCAGCTGTTACTGCA	0.418000													43	53					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757725	75757725	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:75757725G>T	ENST00000260113.2	+	5	813	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	PI15_ENST00000523773.1_Missense_Mutation_p.A212S|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	212						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGCAACTATGCCCCAAAGTA	0.438000													34	27					4.31634e-10	5.09143e-10	1	1	0
GFRAL	389400	broad.mit.edu	37	6	55264013	55264013	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:55264013T>C	ENST00000340465.2	+	7	1074	c.988T>C	c.(988-990)Ttg>Ctg	p.L330L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	330						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGCATGGCATTGTATACAAG	0.274000													9	14					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36214038	36214038	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:36214038C>A	ENST00000420124.1	+	6	2864	c.2864C>A	c.(2863-2865)tCc>tAc	p.S955Y	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S955Y																							TCACTGCCCTCCCATCACGGC	0.652000													19	89					1.33834e-09	1.5709e-09	1	1	0
HOXA6	3203	broad.mit.edu	37	7	27185314	27185314	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:27185314G>C	ENST00000222728.3	-	2	689	c.665C>G	c.(664-666)cCc>cGc	p.P222R	HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CTCCCCGCTGGGCTGCGTGGA	0.622000													54	190					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914083	1914083	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:1914083C>A	ENST00000399161.2	-	13	2493	c.1746G>T	c.(1744-1746)ctG>ctT	p.L582L	MYT1L_ENST00000428368.2_Silent_p.L580L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	582					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCCTTGGCCAGTTTCTCTG	0.597000													21	116					1.96292e-10	2.31923e-10	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44469212	44469212	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:44469212G>T	ENST00000251269.5	+	4	520	c.192G>T	c.(190-192)agG>agT	p.R64S	ZNF221_ENST00000592350.1_Missense_Mutation_p.R64S|ZNF221_ENST00000587682.1_Missense_Mutation_p.R64S	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGAACTTCAGGAACCTGCTCT	0.522000													55	268					4.96213e-28	6.99387e-28	1	1	0
CRY1	1407	broad.mit.edu	37	12	107486641	107486641	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:107486641G>A	ENST00000008527.5	-	1	966	c.99C>T	c.(97-99)tgC>tgT	p.C33C	CRY1_ENST00000550633.1_5'UTR	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	33	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GGATGTAGACGCAGCGGATGG	0.617000											OREG0022082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	27					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333080	126333080	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:126333080C>A	ENST00000525144.2	-	6	963	c.714G>T	c.(712-714)aaG>aaT	p.K238N	KIRREL3_ENST00000529097.2_Missense_Mutation_p.K238N|KIRREL3_ENST00000525704.2_Missense_Mutation_p.K238N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	238	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGACGTCTCCTTTCCTCCGG	0.612000													46	28					4.29476e-34	6.1748e-34	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754442	76754442	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:76754442C>G	ENST00000536229.3	+	1	2761	c.2052C>G	c.(2050-2052)gaC>gaG	p.D684E	SALL3_ENST00000575389.2_Missense_Mutation_p.D817E|SALL3_ENST00000537592.2_Missense_Mutation_p.D817E			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCACCGACCCGGCCAAGC	0.642000													16	51					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959158	14959158	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:14959158C>G	ENST00000316048.2	-	2	529	c.457G>C	c.(457-459)Gct>Cct	p.A153P	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		CCAATTTGAGCTAACACAGTG	0.468000													19	78					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419623	123419623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:123419623G>A	ENST00000360772.3	-	19	3070	c.2692C>T	c.(2692-2694)Cga>Tga	p.R898*	MYLK_ENST00000359169.1_Nonsense_Mutation_p.R898*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.R898*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.R898*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.R829*			Q15746	MYLK_HUMAN	myosin light chain kinase	898	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGAGGTCTCGGAAGTCCAGC	0.622000													20	109					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551334	150551334	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:150551334C>G	ENST00000369026.2	-	1	732	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	MCL1_ENST00000307940.3_Missense_Mutation_p.E225Q	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	225					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGCCGTCTCGTGGTTGCGC	0.617000													9	119					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174168	174168	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:174168G>T	ENST00000283426.6	+	16	3339	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1097	PH.				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)		TGCATGGACCGATGTCATAGG	0.597000													36	8					2.87052e-16	3.64413e-16	1	1	0
C1orf51	148523	broad.mit.edu	37	1	150258955	150258955	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:150258955C>A	ENST00000290363.5	+	5	1196	c.747C>A	c.(745-747)caC>caA	p.H249Q	C1orf51_ENST00000369094.1_Missense_Mutation_p.H161Q|C1orf51_ENST00000369095.1_Missense_Mutation_p.H249Q	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	249										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGGCACCTCACACAAT	0.512000													52	175					1.63038e-21	2.19427e-21	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124417953	124417953	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:124417953C>A	ENST00000409039.3	+	76	13043	c.13018C>A	c.(13018-13020)Cag>Aag	p.Q4340K	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4340					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCGCTGGTGCAGGCCACCTG	0.617000													12	39					0.000308642	0.000324029	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19997444	19997444	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:19997444G>C	ENST00000391403.2	-	1	434	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	111						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCATGCACAAGTTCAGAATTG	0.373000													17	178					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97158966	97158966	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:97158966C>G	ENST00000524981.3	+	27	3604	c.3604C>G	c.(3604-3606)Ctt>Gtt	p.L1202V				Q6ZTY8	CL063_HUMAN		1176										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCTCTGGATCTTTTGTCTTC	0.313000													17	48					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050043	44050043	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:44050043C>G	ENST00000543989.1	-	6	1876	c.171G>C	c.(169-171)gaG>gaC	p.E57D	ABCG5_ENST00000405322.1_Missense_Mutation_p.E281D|ABCG5_ENST00000260645.1_Missense_Mutation_p.E452D			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	452	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTCCTGACTCTCCTGGTCGC	0.572000													6	38					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032181	26032181	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:26032181C>T	ENST00000244661.2	-	1	107	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	36					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GAGGCTTTTTCACGCCGCCGG	0.627000													50	302					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103018580	103018580	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:103018580G>C	ENST00000375735.2	+	19	2926	c.2782G>C	c.(2782-2784)Gat>Cat	p.D928H	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D928H|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	928	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGTTATTTGATCTGCTTGT	0.308000													18	41					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504027	70504027	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:70504027C>G	ENST00000433351.2	+	6	1049	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E	PCYOX1_ENST00000505044.2_Missense_Mutation_p.Q264E|PCYOX1_ENST00000545138.1_Missense_Mutation_p.Q263E|PCYOX1_ENST00000264441.5_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	341				Q -> H (in Ref. 1; AAF16937).	prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TCAATATTATCAACATATAGT	0.353000													11	39					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107808783	107808783	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:107808783G>C	ENST00000379028.3	-	29	3722	c.3252C>G	c.(3250-3252)atC>atG	p.I1084M	NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.I1084M|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.I1084M			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1084	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTCCCAACTGATATTGGCAT	0.378000													15	50					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030302	95030302	+	Silent	SNP	C	C	T	rs141982763	byFrequency	TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:95030302C>T	ENST00000557004.1	+	2	904	c.483C>T	c.(481-483)gcC>gcT	p.A161A	SERPINA4_ENST00000298841.5_Silent_p.A161A|SERPINA4_ENST00000555095.1_Silent_p.A161A|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	161					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACACCATGGCCGTCTATGAGG	0.522000													38	108					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925520	27925520	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:27925520C>A	ENST00000244623.1	+	1	502	c.502C>A	c.(502-504)Ctc>Atc	p.L168I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGCTGCCACTCTGTGACCC	0.483000													91	156					1.7318e-42	2.54092e-42	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768521	31768521	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:31768521C>A	ENST00000240587.4	-	2	2505	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	726					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)					TCATGACTGACTGCAGGGCGC	0.592000													30	105					3.73148e-12	4.52837e-12	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367791	145367791	+	Missense_Mutation	SNP	G	G	A	rs78046651		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:145367791G>A	ENST00000342960.5	+	83	10422	c.10387G>A	c.(10387-10389)Ggg>Agg	p.G3463R	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3463										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aagaaaagaaggggaagaaga	0.433000													27	90					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:168114084C>G	ENST00000519560.1	-	30	3633	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597000													13	32					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63486520	63486520	+	Silent	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:63486520A>G	ENST00000377819.5	+	3	700	c.546A>G	c.(544-546)aaA>aaG	p.K182K	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.K70K|RTN3_ENST00000339997.4_Silent_p.K163K|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	182					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATAGATAAAGAGACCAAGA	0.453000													43	50					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189917494	189917494	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:189917494C>T	ENST00000374866.3	-	40	2970	c.2696G>A	c.(2695-2697)cGa>cAa	p.R899Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	899					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGGGTTCCTCGACCACCTTT	0.408000													8	22					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169174499	169174499	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:169174499C>A	ENST00000256935.8	+	23	2447	c.2367C>A	c.(2365-2367)atC>atA	p.I789I	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.I281I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	789					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)			AAACTACCATCCTTTTGCAGG	0.353000													23	27					7.87624e-14	9.72309e-14	1	1	0
CD22	933	broad.mit.edu	37	19	35827111	35827111	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:35827111C>G	ENST00000085219.5	+	4	651	c.585C>G	c.(583-585)atC>atG	p.I195M	CD22_ENST00000270311.6_Missense_Mutation_p.I75M|CD22_ENST00000594250.1_Missense_Mutation_p.I195M|CD22_ENST00000544992.2_Missense_Mutation_p.I195M|CD22_ENST00000536635.2_Missense_Mutation_p.I195M|CD22_ENST00000419549.2_Missense_Mutation_p.I23M|CD22_ENST00000341773.6_Missense_Mutation_p.I195M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	195	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTTGACCATCAAGTCTGTCT	0.547000													23	70					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656711	240656711	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:240656711C>T	ENST00000318160.4	-	2	331	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	22					BMP signaling pathway	extracellular space	cytokine activity	p.R22L(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGTTCTTCCGGGCTTCCGC	0.617000													6	26					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143033725	143033725	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:143033725C>G	ENST00000513000.1	-	23	2679	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	INPP4B_ENST00000262992.4_Missense_Mutation_p.G749A|INPP4B_ENST00000308502.4_Missense_Mutation_p.G749A|INPP4B_ENST00000508116.1_Missense_Mutation_p.G749A|INPP4B_ENST00000509777.1_Missense_Mutation_p.G749A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	749					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCATTGATTCCAACATTAAA	0.403000													34	75					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113269860	113269860	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:113269860G>A	ENST00000303941.3	+	8	1263	c.1169G>A	c.(1168-1170)tGc>tAc	p.C390Y		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	390							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACGTGGACTGCCAGACGGCC	0.622000													5	18					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48713447	48713447	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:48713447G>A	ENST00000314191.2	-	72	10076	c.10020C>T	c.(10018-10020)ctC>ctT	p.L3340L	PRKDC_ENST00000338368.3_Silent_p.L3340L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3341	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTCACTGCTGAGAGCATTCG	0.448000								Non-homologous end-joining					8	35					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602875	48602875	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:48602875G>T	ENST00000328333.8	-	115	8602	c.8495C>A	c.(8494-8496)cCt>cAt	p.P2832H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2800H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2832	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGGAGCACAGGCACAGCATG	0.632000													3	14					0.004672	0.00479936	1	1	0
TRIM10	10107	broad.mit.edu	37	6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:30127012T>C	ENST00000449742.2	-	2	515	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_ENST00000376704.3_Missense_Mutation_p.H147R	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	147						cytoplasm	zinc ion binding			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403000													21	35					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943612	91943612	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:91943612C>G	ENST00000375807.3	+	5	683	c.612C>G	c.(610-612)atC>atG	p.I204M	SECISBP2_ENST00000534113.2_Missense_Mutation_p.I136M|SECISBP2_ENST00000339901.4_Missense_Mutation_p.I131M|SECISBP2_ENST00000470305.1_3'UTR	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	204					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AATCCAGAATCATTGCAAAAA	0.353000													21	39					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	736907	736907	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:736907G>A	ENST00000584307.1	-	10	1362	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	YES1_ENST00000314574.4_Missense_Mutation_p.R398W|YES1_ENST00000577961.1_Missense_Mutation_p.R403W|RP11-769O8.1_ENST00000583314.1_RNA			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	398	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTAGCAGCCCGAAGATCTCGG	0.363000													10	49					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155534576	155534576	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:155534576A>C	ENST00000401878.3	+	13	2311	c.2113A>C	c.(2113-2115)Aac>Cac	p.N705H		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	705							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCGCCAAGGAACAGCAATTT	0.483000													79	104					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	637808	637808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:637808G>T	ENST00000230449.4	-	2	146	c.11C>A	c.(10-12)tCa>tAa	p.S4*	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	4					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGGTTGTCGTGATCGAGACAT	0.478000													20	171					1.9806e-07	2.20889e-07	1	1	0
CDHR3	222256	broad.mit.edu	37	7	105672972	105672972	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:105672972G>C	ENST00000542731.1	+	19	2595	c.2487G>C	c.(2485-2487)ggG>ggC	p.G829G	CDHR3_ENST00000317716.9_Silent_p.G829G|CDHR3_ENST00000478080.1_Silent_p.G741G|CDHR3_ENST00000343407.5_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	829					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGGGGAAGGGATGGGGTCAC	0.562000													7	50					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229661692	229661692	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:229661692G>C	ENST00000344517.4	-	10	1939	c.1897C>G	c.(1897-1899)Ctc>Gtc	p.L633V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	633	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGAGGAGAACACCCTTT	0.423000													116	318					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174423	51174423	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:51174423G>A	ENST00000440970.1	-	2	1850	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.I570I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	570					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTCCGTCTTGATGAAGGGTA	0.607000													19	59					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98986505	98986505	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:98986505C>A	ENST00000393504.1	+	2	484	c.67C>A	c.(67-69)Cga>Aga	p.R23R	CNGA3_ENST00000436404.2_Silent_p.R23R|CNGA3_ENST00000272602.2_Silent_p.R23R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	23					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GACCTCAGACCGAGATCTCAA	0.507000													4	44					0.150653	0.152141	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203194929	203194929	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:203194929A>T	ENST00000367229.1	-	3	159	c.125T>A	c.(124-126)cTg>cAg	p.L42Q	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.L52Q|CHIT1_ENST00000255427.3_Missense_Mutation_p.L42Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	42					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCTTGGGCAGGAAGCGAGC	0.577000													15	68					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947325	237947325	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:237947325C>G	ENST00000366574.2	+	90	12630	c.12313C>G	c.(12313-12315)Ctc>Gtc	p.L4105V	RYR2_ENST00000542537.1_Missense_Mutation_p.L4089V|RYR2_ENST00000360064.6_Missense_Mutation_p.L4111V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4105					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)			TCTGACAAACCTCTCTGAGCA	0.512000													32	32					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864205	189864205	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:189864205G>T	ENST00000304636.3	+	31	2301	c.2131G>T	c.(2131-2133)Ggt>Tgt	p.G711C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G711C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	711	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTGCTGCTGGTCCTCCTGG	0.468000													26	72					1.61788e-16	2.06121e-16	1	1	0
TUBA4B	80086	broad.mit.edu	37	2	220136644	220136644	+	RNA	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:220136644G>A	ENST00000490341.1	+	0	1114					NR_003063.1																						TGTGCATGCTGAGCAACATGA	0.557000													11	21					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	59					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216462	20216462	+	Silent	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:20216462T>C	ENST00000331723.1	+	1	876	c.876T>C	c.(874-876)aaT>aaC	p.N292N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTCAGAAATACTGATATGA	0.403000													20	59					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837133	17837133	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:17837133G>A	ENST00000324096.4	+	5	1091	c.940G>A	c.(940-942)Gag>Aag	p.E314K	MAP1S_ENST00000544059.2_Missense_Mutation_p.E288K|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	314	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGCGCTCCGAGGTGGCTGC	0.716000													7	29					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200114	128200114	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:128200114G>T	ENST00000341105.2	-	6	1522	c.1191C>A	c.(1189-1191)aaC>aaA	p.N397K	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.N383K|GATA2_ENST00000487848.1_Missense_Mutation_p.N397K	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	397					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACATCTTCCGGTTCCGAGTCT	0.532000			Mis		AML(CML blast transformation)								61	64					2.60599e-31	3.70216e-31	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72054985	72054985	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:72054985G>T	ENST00000555818.1	+	2	744	c.396G>T	c.(394-396)ctG>ctT	p.L132L	SIPA1L1_ENST00000381232.3_Silent_p.L132L|SIPA1L1_ENST00000358550.2_Silent_p.L132L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	132	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCCATGCTGAAAAGCATAC	0.478000													45	143					1.76056e-25	2.44769e-25	1	1	0
CATSPER4	378807	broad.mit.edu	37	1	26517184	26517184	+	Silent	SNP	C	C	A	rs146583262		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:26517184C>A	ENST00000456354.2	+	1	133	c.66C>A	c.(64-66)ggC>ggA	p.G22G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	22					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGGTGGGGCGGGACTCAGG	0.592000													21	29					1.9806e-07	2.20889e-07	1	1	0
NEB	4703	broad.mit.edu	37	2	152544853	152544853	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:152544853C>A	ENST00000397345.3	-	25	2570	c.2368G>T	c.(2368-2370)Gct>Tct	p.A790S	NEB_ENST00000603639.1_Missense_Mutation_p.A790S|NEB_ENST00000172853.10_Missense_Mutation_p.A790S|NEB_ENST00000427231.2_Missense_Mutation_p.A790S|NEB_ENST00000409198.1_Missense_Mutation_p.A790S|NEB_ENST00000604864.1_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													7	23					8.12818e-05	8.6219e-05	1	1	0
CHD6	84181	broad.mit.edu	37	20	40033717	40033717	+	Nonsense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:40033717G>C	ENST00000373233.3	-	37	7841	c.7664C>G	c.(7663-7665)tCa>tGa	p.S2555*	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2555					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTGTGCTTGATAGAGACGC	0.547000													44	210					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212040	131212040	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:131212040C>G	ENST00000298542.4	-	12	2180	c.2005G>C	c.(2005-2007)Gaa>Caa	p.E669Q	FRMD7_ENST00000370879.1_Missense_Mutation_p.E549Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.E654Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	669					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCTTATTTCTTTGCCATAC	0.403000													41	47					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108110687	108110687	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:108110687C>T	ENST00000374720.3	+	5	702	c.455C>T	c.(454-456)tCt>tTt	p.S152F	SLC44A1_ENST00000374723.1_Missense_Mutation_p.S152F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S152F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	152						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TACACTACATCTCCAAAATCT	0.368000													21	56					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934683	4934683	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:4934683G>C	ENST00000345988.2	-	22	4062	c.3973C>G	c.(3973-3975)Ctg>Gtg	p.L1325V	PPL_ENST00000590782.2_Missense_Mutation_p.L1323V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1325					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCCTCTCCAGATCCACTTGT	0.567000													88	262					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41051129	41051129	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:41051129T>G	ENST00000399564.4	-	13	1744	c.1294A>C	c.(1294-1296)Agc>Cgc	p.S432R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACCTCAAGGCTTGTTTCTCGG	0.398000													4	27					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262705	76262705	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:76262705C>G	ENST00000263187.3	+	1	139	c.35C>G	c.(34-36)tCt>tGt	p.S12C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	12					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACCTCGCCTTCTGCCCCGGCG	0.607000								Mismatch excision repair (MMR)					27	99					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34051075	34051075	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:34051075G>C	ENST00000382499.2	-	12	1506	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464E|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503E|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467E|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464E	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	464	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGTTATTCTGAATTGTTCGG	0.378000													27	81					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479859	228479859	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:228479859A>T	ENST00000570156.2	+	44	11961	c.11887A>T	c.(11887-11889)Agg>Tgg	p.R3963W	OBSCN_ENST00000422127.1_Missense_Mutation_p.R3534W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3534W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R653W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R653W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2381W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3001	Ig-like 40.				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)				GCTCACCATCAGGGGTAAAGA	0.592000													30	105					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835622	139835622	+	Splice_Site	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:139835622C>T	ENST00000325285.3	-	9	1538	c.1457_splice	c.e9-1	p.G487_splice	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	487							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCCTCCGCCCCGCTGCAGAAC	0.697000													7	19					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187126445	187126445	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:187126445A>G	ENST00000378802.4	+	8	1383	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	360					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CATGAATTGGATGACGTGTTT	0.438000													21	61					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618900	117618900	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:117618900C>A	ENST00000369466.3	+	6	1418	c.1374C>A	c.(1372-1374)acC>acA	p.T458T		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	458					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGGTCTTACCCTTTCCCCAG	0.473000													33	35					2.61193e-14	3.22995e-14	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43307776	43307776	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:43307776G>C	ENST00000361428.2	-	10	4037	c.3960C>G	c.(3958-3960)atC>atG	p.I1320M	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1320	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTTGATTTTGATAGGCTTTG	0.448000													61	188					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													7	108					1.76689e-08	2.0274e-08	1	1	0
KRT83	3889	broad.mit.edu	37	12	52715051	52715051	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:52715051G>A	ENST00000293670.3	-	1	131	c.69C>T	c.(67-69)tgC>tgT	p.C23C		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	23	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGGGGCCCGCAGGCAGAGA	0.657000													40	101					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821925	21821925	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:21821925C>G	ENST00000216297.2	-	24	3195	c.2857G>C	c.(2857-2859)Gat>Cat	p.D953H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	953	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCATAGTCATCTTCTGAAGGA	0.403000													18	52					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2825402	2825402	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:2825402C>T	ENST00000381154.1	-	10	1767	c.1692G>A	c.(1690-1692)atG>atA	p.M564I		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	564			M -> T (in dbSNP:rs2228431).			lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				GGATGTTGCTCATGGAAAACT	0.627000													7	32					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51306816	51306816	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:51306816C>A	ENST00000522124.1	+	3	679	c.18C>A	c.(16-18)gcC>gcA	p.A6A	SNTG1_ENST00000518864.1_Silent_p.A6A|SNTG1_ENST00000517473.1_Silent_p.A6A|SNTG1_ENST00000276467.5_Silent_p.A6A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	6					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGAACCGCCTGTGAGGAGG	0.438000													13	18					0.000151284	0.000159764	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20345371	20345371	+	Nonstop_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:20345371G>T	ENST00000298642.2	+	1	981	c.945G>T	c.(943-945)taG>taT	p.*315Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	0					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)		TGCCTTCATAGTTTTTGTGAC	0.348000													9	21					0.000274275	0.000288371	1	1	0
PRMT6	55170	broad.mit.edu	37	1	107599740	107599740	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:107599740G>T	ENST00000361318.5	+	1	474	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F	PRMT6_ENST00000370078.1_Missense_Mutation_p.V135F	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	135					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CCGGGTGCACGTCCTGCCGGG	0.677000													10	155					0.000673444	0.000699834	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71895994	71895994	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:71895994C>A	ENST00000373545.3	-	6	982	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	PHKA1_ENST00000373539.3_Missense_Mutation_p.G182W|PHKA1_ENST00000339490.3_Missense_Mutation_p.G182W|PHKA1_ENST00000373542.4_Missense_Mutation_p.G182W|PHKA1_ENST00000541944.1_Missense_Mutation_p.G182W			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	182					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCCCATATCCCGAAGTCCTGG	0.393000													18	25					1.50039e-11	1.79946e-11	1	1	0
PRKAA2	5563	broad.mit.edu	37	1	57140146	57140146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:57140146C>T	ENST00000371244.4	+	2	253	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	63	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAAAATAAAACGAGAAATTCA	0.294000													31	47					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36334379	36334379	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:36334379T>A	ENST00000378910.5	-	17	2328	c.2329A>T	c.(2329-2331)Aga>Tga	p.R777*	NPHS1_ENST00000353632.6_Nonsense_Mutation_p.R777*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	777	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCAGTCTCTCCCAGTTG	0.557000													51	216					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014234	168014234	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:168014234C>G	ENST00000367840.3	+	16	2121	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	DCAF6_ENST00000367843.3_Missense_Mutation_p.S619C|DCAF6_ENST00000312263.6_Missense_Mutation_p.S599C|DCAF6_ENST00000432587.2_Missense_Mutation_p.S645C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	603	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCAGAAGAATCTGCTTCATCT	0.438000													38	164					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662628	227662628	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:227662628C>A	ENST00000305123.4	-	1	1847	c.827G>T	c.(826-828)tGc>tTc	p.C276F		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	276	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTAGAGCAGTTGGACGA	0.642000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	82					9.86323e-18	1.27936e-17	1	1	0
NDUFS4	4724	broad.mit.edu	37	5	52979051	52979051	+	Nonstop_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:52979051G>T	ENST00000296684.5	+	5	556	c.528G>T	c.(526-528)taG>taT	p.*176Y		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	0					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	CCACAAAATAGGTTGGCACTG	0.363000													16	61					6.31663e-08	7.08888e-08	1	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435390	104435390	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:104435390G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCTGAAGCCTGAGGATGCCAT	0.403000													27	44					1.77063e-15	2.21252e-15	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84690886	84690886	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:84690886A>G	ENST00000564996.1	+	3	614	c.473A>G	c.(472-474)tAc>tGc	p.Y158C	KLHL36_ENST00000258157.5_Missense_Mutation_p.Y158C	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	158	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCCTCCATCTACAGCCTCAAG	0.572000													48	38					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865455	52865455	+	Splice_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:52865455C>A	ENST00000252250.6	-	3	864		c.e3+1			NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C						cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CATCTGCTCACCTTCTTCAGA	0.483000													25	132					8.24728e-16	1.03962e-15	1	1	0
SLC35D2	11046	broad.mit.edu	37	9	99114339	99114339	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:99114339G>A	ENST00000253270.7	-	5	462	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	SLC35D2_ENST00000375259.4_Silent_p.L134L|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Silent_p.L134L	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	134						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ATGGTTTCCAGAAGTAAGGTA	0.453000													7	30					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29093099	29093099	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:29093099C>A	ENST00000306108.5	-	1	68	c.45G>T	c.(43-45)cgG>cgT	p.R15R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	15							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGAGCCCCTGCCGCAGGCACA	0.637000													6	53					0.217242	0.218156	1	1	0
SMG1	23049	broad.mit.edu	37	16	18887446	18887446	+	Splice_Site	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:18887446C>G	ENST00000446231.2	-	13	2302	c.1890_splice	c.e13+1	p.G630_splice	SMG1_ENST00000389467.3_Splice_Site_p.G630_splice|SMG1_ENST00000565224.1_Silent_p.G604G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	630	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAAGACTCACCCCTATTAGTG	0.333000													9	108					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038926	11038926	+	RNA	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:11038926C>G	ENST00000470054.1	-	0	1277									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACACATCTGCCTTGCTTATG	0.428000													13	485					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393992	46393992	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:46393992C>A	ENST00000322217.5	-	3	1175	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	363	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGTGCCCCCTCCTCGCTCC	0.687000													5	10					0.000602214	0.00062855	1	1	0
INSC	387755	broad.mit.edu	37	11	15170756	15170756	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:15170756C>G	ENST00000379554.3	+	2	223	c.177C>G	c.(175-177)tcC>tcG	p.S59S	INSC_ENST00000530161.1_Silent_p.S12S|INSC_ENST00000424273.1_Silent_p.S12S|INSC_ENST00000379556.3_Silent_p.S12S|INSC_ENST00000525218.1_Silent_p.S12S|INSC_ENST00000528567.1_Silent_p.S12S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	59					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCTGGACTCCGTCACCCTGC	0.607000													6	50					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122166	50122166	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:50122166T>G	ENST00000374160.3	-	1	111	c.35A>C	c.(34-36)aAg>aCg	p.K12T	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K12T|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	12						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAGGGTGATCTTCTTGCCCTT	0.438000													4	47					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	727622	727622	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:727622G>T	ENST00000264560.7	+	4	391	c.197G>T	c.(196-198)gGg>gTg	p.G66V	PALM_ENST00000338448.5_Missense_Mutation_p.G66V|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	66					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCCTCAGAGGGGGATGAGGAC	0.682000													7	5					8.12818e-05	8.6219e-05	1	1	0
TNR	7143	broad.mit.edu	37	1	175365914	175365914	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:175365914C>T	ENST00000367674.1	-	5	1714	c.1006G>A	c.(1006-1008)Ggt>Agt	p.G336S	TNR_ENST00000263525.2_Missense_Mutation_p.G336S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	336	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGCTGATACCAGCCACTCGC	0.577000													59	87					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103032181	103032181	+	Splice_Site	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:103032181T>C	ENST00000306312.3	-	11	1382	c.1119_splice	c.e11-1	p.E374_splice	SLC26A5_ENST00000432958.2_Splice_Site_p.E374_splice|SLC26A5_ENST00000393723.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393727.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393730.1_Splice_Site_p.E374_splice|SLC26A5_ENST00000393735.2_Splice_Site_p.E374_splice|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Splice_Site_p.E374_splice|SLC26A5_ENST00000393729.1_Splice_Site_p.E337_splice	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	374					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGCAATGAGCTCCTTTCCCAT	0.433000													9	21					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80302097	80302097	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:80302097C>T	ENST00000435819.1	+	15	1821	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CD36_ENST00000447544.2_Silent_p.F379F|CD36_ENST00000394788.3_Silent_p.F379F|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000534394.1_Silent_p.F303F|CD36_ENST00000538969.1_Silent_p.F319F|CD36_ENST00000432207.1_Silent_p.F379F|CD36_ENST00000433696.2_Silent_p.F340F|CD36_ENST00000309881.7_Silent_p.F379F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	379					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAACTGGATTCACTTTACAAT	0.299000													9	36					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	970201	970201	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:970201A>T	ENST00000537687.1	+	7	2286	c.1643A>T	c.(1642-1644)gAa>gTa	p.E548V	WNK1_ENST00000340908.4_Missense_Mutation_p.E141V|WNK1_ENST00000535572.1_Missense_Mutation_p.E548V|WNK1_ENST00000530271.2_Missense_Mutation_p.E548V|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.E548V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	548					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TATGTCTGTGAAGGTGATCAC	0.438000													162	128					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74921144	74921144	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:74921144G>T	ENST00000569840.2	+	9	1696	c.1122G>T	c.(1120-1122)atG>atT	p.M374I	MGAT5B_ENST00000428789.2_Missense_Mutation_p.M385I|MGAT5B_ENST00000301618.4_Missense_Mutation_p.M374I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	374						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						TGCAGCAGATGAAGCGGCACA	0.632000													68	53					1.02016e-41	1.49373e-41	1	1	0
IQSEC2	23096	broad.mit.edu	37	X	53285034	53285034	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:53285034G>C	ENST00000396435.3	-	3	1147	c.947C>G	c.(946-948)tCc>tGc	p.S316C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S111C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S306C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	306					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TAGGGCCTTGGAGCGCTTTAT	0.622000													5	23					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113308	18113308	+	Missense_Mutation	SNP	G	G	T	rs143152428		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:18113308G>T	ENST00000403915.1	+	3	1484	c.1033G>T	c.(1033-1035)Gtg>Ttg	p.V345L	KCNS3_ENST00000304101.4_Missense_Mutation_p.V345L|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	345					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATCTACTCCGTGGAGAAAGA	0.537000													60	150					7.91745e-34	1.13605e-33	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018635	34018635	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:34018635C>T	ENST00000389232.4	+	46	7031	c.6961C>T	c.(6961-6963)Cgc>Tgc	p.R2321C	RYR3_ENST00000415757.3_Missense_Mutation_p.R2321C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2321	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCCATCCTGCGCTCCCTGGT	0.552000													3	9					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53885016	53885016	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:53885016T>C	ENST00000467003.1	+	4	1277	c.1076T>C	c.(1075-1077)aTg>aCg	p.M359T	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.M395T|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.M113T					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TTCAGTCATATGTCAACCCTT	0.378000													16	40					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072277	34072277	+	Nonsense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:34072277G>C	ENST00000382499.2	-	4	466	c.467C>G	c.(466-468)tCa>tGa	p.S156*	SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.S117*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.S156*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.S117*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.S117*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	117	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCGCACTTCTGAAATGCGATC	0.383000													9	47					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155744857	155744857	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:155744857C>T	ENST00000437809.1	-	17	2408	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000271883.5_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.L762L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	762					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCTTCAATCAGCTGCATAG	0.463000													10	72					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22747878	22747878	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:22747878C>T	ENST00000454584.2	+	4	613	c.308C>T	c.(307-309)cCc>cTc	p.P103L	GAS2_ENST00000433790.1_Missense_Mutation_p.P103L|GAS2_ENST00000278187.3_Missense_Mutation_p.P103L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	103	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						ACCAGTGCACCCTCGGGCTCC	0.408000													77	59					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69875930	69875930	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:69875930C>T	ENST00000359154.2	+	6	583	c.482C>T	c.(481-483)tCa>tTa	p.S161L	WWP2_ENST00000448661.1_Missense_Mutation_p.S161L|WWP2_ENST00000569174.1_Missense_Mutation_p.S161L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.S161L|WWP2_ENST00000542271.1_Missense_Mutation_p.S45L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	161					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTAGGATCACAGCTGCCT	0.512000													4	9					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778187	110778187	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:110778187G>C	ENST00000368919.3	-	2	153	c.87C>G	c.(85-87)ttC>ttG	p.F29L	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.F29L|SLC22A16_ENST00000456137.2_Missense_Mutation_p.F29L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.F27L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	29					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGATGTTCTGGAAGGCACATA	0.423000													27	97					0	0	1	0	0
APOPT1	84334	broad.mit.edu	37	14	104056611	104056611	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:104056611G>A	ENST00000409074.2	+	5	610	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Silent_p.K190K	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		AACAAAAGAAGAGGAGCAACT	0.483000													35	97					0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070735	176070735	+	Splice_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:176070735C>A	ENST00000318682.6	+	5	880	c.296_splice	c.e5+1	p.A99_splice	EIF4E1B_ENST00000504597.1_Splice_Site_p.A99_splice	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	99	EIF4EBP1/2/3 binding (By similarity).				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTTCTGGGCGTGAGTGTCT	0.627000													6	7					5.9392e-07	6.56245e-07	1	1	0
CTSB	1508	broad.mit.edu	37	8	11703195	11703195	+	Silent	SNP	G	G	C	rs147857910		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:11703195G>C	ENST00000353047.6	-	9	1150	c.897C>G	c.(895-897)tcC>tcG	p.S299S	CTSB_ENST00000530640.2_Silent_p.S299S|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Silent_p.S299S|CTSB_ENST00000534510.1_Silent_p.S299S|CTSB_ENST00000453527.2_Silent_p.S299S|CTSB_ENST00000345125.3_Silent_p.S299S|CTSB_ENST00000434271.1_Silent_p.S299S|CTSB_ENST00000533455.1_Silent_p.S299S	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	299					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CAGTGTTCCAGGAGTTGGCAA	0.587000													15	30					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40174644	40174644	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:40174644G>T	ENST00000309930.5	+	1	70	c.46G>T	c.(46-48)Gca>Tca	p.A16S	C7orf10_ENST00000335693.4_Missense_Mutation_p.A16S|C7orf10_ENST00000540834.1_Missense_Mutation_p.A9S|C7orf10_ENST00000401647.2_Missense_Mutation_p.A16S	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	16							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGCGAGGGTGGCAGCTCTGCG	0.726000													3	7					0.184627	0.185926	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41791831	41791831	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:41791831C>A	ENST00000396930.3	-	18	4450	c.3907G>T	c.(3907-3909)Gat>Tat	p.D1303Y	KAT6A_ENST00000406337.1_Missense_Mutation_p.D1303Y|KAT6A_ENST00000265713.2_Missense_Mutation_p.D1303Y	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1303					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GCAGCTGCAtcttcctcctcc	0.567000													36	124					1.06647e-15	1.33729e-15	1	1	0
USP40	55230	broad.mit.edu	37	2	234460097	234460097	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:234460097C>T	ENST00000251722.6	-	7	879	c.762G>A	c.(760-762)gtG>gtA	p.V254V	USP40_ENST00000450966.1_Silent_p.V266V|USP40_ENST00000427112.2_Silent_p.V254V			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	254					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTTCGCATTTCACAAAATCAA	0.318000													3	26					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484791	43484791	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:43484791G>C	ENST00000395891.1	+	11	2625	c.2020G>C	c.(2020-2022)Gac>Cac	p.D674H	HECW1_ENST00000453890.1_Missense_Mutation_p.D674H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	674	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGAGGGCTGTGACGCGTCCTG	0.687000													4	60					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32582528	32582528	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:32582528C>A	ENST00000286827.3	-	12	2692	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E716*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	741					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTTCTTTCTCCCTCTATAAC	0.478000													31	94					8.88839e-20	1.17419e-19	1	1	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847262	32847262	+	RNA	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:32847262G>C	ENST00000420261.1	-	0	363																											TCTTGTTCCTGAACCTGATAC	0.443000													5	16					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151131057	151131057	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:151131057T>A	ENST00000370325.1	-	4	454	c.401A>T	c.(400-402)aAc>aTc	p.N134I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.N134I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	134					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGTGTCGTTGTAACAGAG	0.488000													48	61					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35428396	35428396	+	Splice_Site	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:35428396G>T	ENST00000229769.2	+	8	1568		c.e8+1			NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E						DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGAGCGGCAGGTGAGCAGGCT	0.557000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	63					1.08312e-15	1.35579e-15	1	1	0
MAP2K6	5608	broad.mit.edu	37	17	67521065	67521065	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:67521065C>G	ENST00000590474.1	+	9	974	c.687C>G	c.(685-687)ctC>ctG	p.L229L	MAP2K6_ENST00000589647.1_Silent_p.L173L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	229	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					ACCCAGAGCTCAACCAGAAGG	0.438000													12	51					0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68544205	68544205	+	Nonstop_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:68544205T>G	ENST00000409862.1	-	3	595	c.414A>C	c.(412-414)taA>taC	p.*138Y	CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000263655.3_Intron|CNRIP1_ENST00000409559.3_Intron			Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ACACCTTTTCTTACAGAGAGA	0.423000													4	52					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21423973	21423973	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:21423973C>T	ENST00000304625.2	+	2	133	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	15					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCTGCTTCTTCTGTTGGGGCT	0.463000													52	120					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995163	140995163	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:140995163C>A	ENST00000285879.4	+	4	2259	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	658							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCCAGTCTCCTCTCCAT	0.592000										HNSCC(15;0.026)			97	163					2.24395e-52	3.30591e-52	1	1	0
PPL	5493	broad.mit.edu	37	16	4934911	4934911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:4934911G>A	ENST00000345988.2	-	22	3834	c.3745C>T	c.(3745-3747)Cag>Tag	p.Q1249*	PPL_ENST00000590782.2_Nonsense_Mutation_p.Q1247*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1249					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGAGCCGCTGAAGCTCCTTC	0.527000													52	110					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199767	44199767	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:44199767C>G	ENST00000393841.1	+	11	1388	c.897C>G	c.(895-897)atC>atG	p.I299M	SLC29A1_ENST00000371731.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.I299M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.I378M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.I299M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.I299M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.I299M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	299					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCTGCTTCATCTTCACTATCA	0.522000													11	74					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14708874	14708874	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:14708874C>A	ENST00000218075.4	+	8	1503	c.973C>A	c.(973-975)Ctt>Att	p.L325I	GLRA2_ENST00000355020.4_Missense_Mutation_p.L325I|GLRA2_ENST00000443437.2_Missense_Mutation_p.L236I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	325					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGCGGTGTGCCTTCTGTTTGT	0.502000													13	46					2.27111e-07	2.52502e-07	1	1	0
FAM83F	113828	broad.mit.edu	37	22	40417511	40417511	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:40417511T>A	ENST00000333407.5	+	4	1091	c.997T>A	c.(997-999)Tgc>Agc	p.C333S	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	333										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGTGTCAGGCTGCCGCCACCC	0.687000													18	64					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563743	1563743	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:1563743C>G	ENST00000572621.1	-	29	5033	c.4768G>C	c.(4768-4770)Gtt>Ctt	p.V1590L	PRPF8_ENST00000304992.6_Missense_Mutation_p.V1590L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1590						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AAGTCCATAACAATGCTCTCA	0.527000													15	654					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	67					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235850271	235850271	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:235850271G>T	ENST00000389794.3	-	48	10952	c.10778C>A	c.(10777-10779)aCa>aAa	p.T3593K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.T3593K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3593					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.T3593K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAATCTGTTTGTGTAGGCTGT	0.453000													27	145					1.30988e-24	1.81407e-24	1	1	0
FBXL13	222235	broad.mit.edu	37	7	102566797	102566797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:102566797C>A	ENST00000393772.2	-	10	1228	c.802G>T	c.(802-804)Gag>Tag	p.E268*	LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.E268*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.E268*|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.E268*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.E268*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.E268*			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	268										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGGCAGCCCTCAGAAATGTGT	0.433000													8	30					3.07112e-06	3.38295e-06	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12666802	12666802	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:12666802C>A	ENST00000425538.1	+	14	3002	c.2802C>A	c.(2800-2802)ccC>ccA	p.P934P	MYOCD_ENST00000343344.4_Silent_p.P886P|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	886					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P934P(1)|p.P886P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGAATCTCCCTGGGAAACCA	0.547000													13	46					0.000151284	0.000159764	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541889	133541889	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:133541889G>A	ENST00000409261.1	-	14	2868	c.2495C>T	c.(2494-2496)aCt>aTt	p.T832I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T832I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	832							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						TTTTTCAAGAGTCACCAGGCC	0.478000													54	149					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132636145	132636145	+	Missense_Mutation	SNP	G	G	T	rs144634478		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:132636145G>T	ENST00000330579.1	+	12	1231	c.1190G>T	c.(1189-1191)cGg>cTg	p.R397L	NOC4L_ENST00000538784.1_Missense_Mutation_p.R12L|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	397					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CTGCTGCGCCGGCACCCTGCC	0.731000													9	22					1.76689e-08	2.0274e-08	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45479081	45479081	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:45479081A>T	ENST00000291574.4	+	6	951	c.776A>T	c.(775-777)aAc>aTc	p.N259I	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.N259I	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	259					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TATGTGGTCAACTTCGGGGCC	0.517000													7	35					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185077	56185077	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:56185077G>T	ENST00000312253.1	-	1	631	c.632C>A	c.(631-633)tCt>tAt	p.S211Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GACAATGGAAGAGGAAGAGAT	0.463000													77	43					8.16569e-41	1.19319e-40	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249421	43249421	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:43249421C>A	ENST00000255226.6	+	16	3003	c.2187C>A	c.(2185-2187)tcC>tcA	p.S729S	SLC14A2_ENST00000589658.1_Silent_p.S206S|SLC14A2_ENST00000586448.1_Silent_p.S729S|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	729						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCTGCATCCGCCATGCCCA	0.542000													108	140					5.09e-60	7.52984e-60	1	1	0
MYO10	4651	broad.mit.edu	37	5	16769190	16769190	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:16769190G>A	ENST00000513610.1	-	10	1507	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	351	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TACCTGTTTTGAAGGAAACCT	0.473000													4	46					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233500	45233500	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:45233500G>C	ENST00000303077.6	-	2	1004	c.685C>G	c.(685-687)Ccc>Gcc	p.P229A		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	229						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCAGTGCGGGGCTGGATGAT	0.692000													17	135					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711386	45711386	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:45711386G>A	ENST00000310806.4	-	4	1452	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	332					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GAACCTGGAAGACCTGTCTCT	0.398000													9	58					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23425845	23425845	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:23425845G>T	ENST00000519973.1	+	3	648	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	150					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGATAGCTGGGAGTATGGCCA	0.517000													43	167					2.215e-12	2.69507e-12	1	1	0
AP1B1	162	broad.mit.edu	37	22	29755848	29755848	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:29755848C>T	ENST00000357586.2	-	4	430	c.244G>A	c.(244-246)Gac>Aac	p.D82N	AP1B1_ENST00000432560.2_Missense_Mutation_p.D82N|AP1B1_ENST00000317368.7_Missense_Mutation_p.D82N|AP1B1_ENST00000356015.2_Missense_Mutation_p.D82N|AP1B1_ENST00000402502.1_Missense_Mutation_p.D82N|AP1B1_ENST00000405198.1_Missense_Mutation_p.D82N|AP1B1_ENST00000415447.1_Missense_Mutation_p.D82N	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	82					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATGGCCATGTCAGGCTGACTC	0.537000											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	132					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60588535	60588535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:60588535C>T	ENST00000373886.3	+	21	2813	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	937					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAATAAAAACCGAAGAAAGCT	0.438000													22	21					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590566	137590566	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:137590566A>T	ENST00000330387.6	-	6	1148	c.797T>A	c.(796-798)cTg>cAg	p.L266Q	CREB3L2_ENST00000456390.1_Missense_Mutation_p.L266Q	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	266					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCTCTGTCAGGACCAGAGG	0.527000			T	FUS	fibromyxoid sarcoma								77	113					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379709	88379709	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:88379709A>C	ENST00000298699.2	-	11	1224	c.1044T>G	c.(1042-1044)aaT>aaG	p.N348K	C12orf50_ENST00000550553.1_Missense_Mutation_p.N309K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	348										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGGAAGGTGCATTCAACGCGA	0.463000													37	104					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935492	56935492	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:56935492G>A	ENST00000333201.9	+	5	1675	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.E489K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCATACTGGAGAGAAACCTTA	0.383000													28	75					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	70999419	70999419	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:70999419G>A	ENST00000396396.1	+	3	759	c.530G>A	c.(529-531)aGa>aAa	p.R177K	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.R177K	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	177					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGACTAGGAAGACAAGAATTT	0.398000													24	61					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423702	25423702	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:25423702G>T	ENST00000441592.2	+	0	273																											CCCAGATGGTGACTGTGGAAG	0.602000													11	13					3.07112e-06	3.38295e-06	1	1	0
TENM3	55714	broad.mit.edu	37	4	183601753	183601753	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:183601753G>T	ENST00000511685.1	+	10	1820	c.1697G>T	c.(1696-1698)tGt>tTt	p.C566F	TENM3_ENST00000406950.2_Missense_Mutation_p.C566F|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CGCTGCCTGTGTTTCAGCGGC	0.552000													16	32					9.16793e-09	1.05875e-08	1	1	0
WDR66	144406	broad.mit.edu	37	12	122392025	122392025	+	Splice_Site	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:122392025G>C	ENST00000288912.4	+	10	2174		c.e10-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66								calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TTTTGAAACAGACCTTCAACA	0.343000													8	56					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822390	121822390	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:121822390C>T	ENST00000330540.2	+	3	212	c.96C>T	c.(94-96)ttC>ttT	p.F32F	CD86_ENST00000393627.2_Silent_p.F26F|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	32					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAGCTTATTTCAATGAGACTG	0.428000													9	61					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013210	5013210	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:5013210G>C	ENST00000380390.1	+	6	828	c.612G>C	c.(610-612)ctG>ctC	p.L204L	MMP26_ENST00000300762.1_Silent_p.L204L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	204					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCTGTTCCTGGTTGCAACTC	0.393000													12	18					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55897302	55897302	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:55897302G>C	ENST00000521992.1	-	7	1000	c.855C>G	c.(853-855)atC>atG	p.I285M	CES5A_ENST00000520435.1_Missense_Mutation_p.I226M|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.I256M|CES5A_ENST00000518005.1_Missense_Mutation_p.I150M|CES5A_ENST00000319165.9_Missense_Mutation_p.I256M	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	256						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTAAGGGATGATGGCCACCC	0.498000													28	82					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777848	109777848	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:109777848G>T	ENST00000369923.4	+	7	775	c.764G>T	c.(763-765)aGt>aTt	p.S255I	SARS_ENST00000234677.2_Missense_Mutation_p.S255I			P49591	SYSC_HUMAN	seryl-tRNA synthetase	255					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCAAAGGCAGTGAAAAGTCT	0.507000													86	105					2.36867e-37	3.44009e-37	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7605141	7605141	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:7605141C>T	ENST00000256861.6	-	14	2812	c.2734G>A	c.(2734-2736)Gcc>Acc	p.A912T	ITIH5_ENST00000446830.2_Missense_Mutation_p.A694T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A698T|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	912					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A912T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATCAGTTTGGCGGCATTGTTC	0.522000													37	151					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298588	125298588	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:125298588C>A	ENST00000538699.1	-	2	1400	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.E440D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAGCTTCATCTCCGGCCAGT	0.572000													50	80					1.11015e-26	1.54945e-26	1	1	0
CORO1B	57175	broad.mit.edu	37	11	67208510	67208510	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:67208510C>G	ENST00000453768.2	-	6	912	c.842G>C	c.(841-843)tGg>tCg	p.W281S	CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGCTAGGAACCACAGGCCTCC	0.657000													27	35					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155490	109155490	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:109155490G>A	ENST00000261483.4	+	14	3282	c.2230G>A	c.(2230-2232)Gga>Aga	p.G744R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	744					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)		AGAAGATAGCGGAATTTTCAC	0.333000													11	87					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927254	92927254	+	Silent	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:92927254A>T	ENST00000373079.3	-	1	1313	c.1050T>A	c.(1048-1050)ccT>ccA	p.P350P	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	350					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						CAGGCTGGCCAGGTTTTGAGA	0.403000													36	24					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423693	44423693	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:44423693A>G	ENST00000372343.3	+	8	2247	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	529					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CATGATCAACAGTGTTCTGCC	0.552000													90	140					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70979357	70979357	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:70979357G>T	ENST00000357250.6	-	16	1367	c.1209C>A	c.(1207-1209)ggC>ggA	p.G403G	COL9A1_ENST00000320755.7_Silent_p.G160G|COL9A1_ENST00000370499.4_Silent_p.G160G|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	403	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CATCATGAAAGCCAATTGTTC	0.294000													6	18					0.00621372	0.00637396	1	1	0
HADHB	3032	broad.mit.edu	37	2	26496567	26496567	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:26496567C>G	ENST00000317799.5	+	6	407	c.303C>G	c.(301-303)atC>atG	p.I101M	HADHB_ENST00000405867.3_Missense_Mutation_p.I101M|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.I79M|HADHB_ENST00000537713.1_Missense_Mutation_p.I86M	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	101					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGATTATATCATCTTTGGTA	0.393000													15	43					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9541496	9541496	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:9541496G>A	ENST00000281419.3	+	27	3257	c.2917G>A	c.(2917-2919)Gtg>Atg	p.V973M	ASAP2_ENST00000315273.4_Missense_Mutation_p.V928M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	973	SH3.				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						TGTGATCATCGTGGACGGGGA	0.622000													40	74					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262269	37262269	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:37262269A>G	ENST00000310758.4	-	10	1378	c.731T>C	c.(730-732)aTt>aCt	p.I244T	ELMO1_ENST00000448602.1_Missense_Mutation_p.I244T|ELMO1_ENST00000442504.1_Missense_Mutation_p.I244T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	244					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AATCACTGCAATAGTATAGGT	0.418000													50	74					0	0	1	0	0
APOPT1	84334	broad.mit.edu	37	14	104056599	104056599	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:104056599G>A	ENST00000409074.2	+	5	598	c.597G>A	c.(595-597)caG>caA	p.Q199Q	RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Silent_p.Q186Q	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		AGCTTAAACAGAAACAAAAGA	0.478000													38	117					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426864	152426864	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:152426864C>A	ENST00000397345.3	-	109	17363	c.17161G>T	c.(17161-17163)Gtg>Ttg	p.V5721L	NEB_ENST00000603639.1_Missense_Mutation_p.V5721L|NEB_ENST00000172853.10_Missense_Mutation_p.V4020L|NEB_ENST00000427231.2_Missense_Mutation_p.V5721L|NEB_ENST00000409198.1_Missense_Mutation_p.V4020L|NEB_ENST00000604864.1_Missense_Mutation_p.V5721L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5737					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)		AGGGTGCCCACGTAGTGTCCC	0.512000													10	24					0.000673444	0.000699834	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71036285	71036285	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:71036285C>T	ENST00000452400.2	-	21	4308	c.4127G>A	c.(4126-4128)gGg>gAg	p.G1376E	NCOA2_ENST00000267974.4_Missense_Mutation_p.G464E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1376					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)			TGCTTGCTGCCCAAAGTGTGG	0.493000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								9	29					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302957	179302957	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:179302957C>G	ENST00000356834.3	-	11	1900	c.1863G>C	c.(1861-1863)gaG>gaC	p.E621D	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E621D	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	621	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCATGCGCTCGCACAGGG	0.647000													7	12					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045769	167045769	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:167045769C>A	ENST00000392766.2	-	11	1163	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	ZBBX_ENST00000392767.2_Missense_Mutation_p.D275Y|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.D246Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D275Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D275Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	275						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTTGTCATCATGATTTCCG	0.388000													33	59					2.85442e-18	3.72949e-18	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103335273	103335273	+	Missense_Mutation	SNP	C	C	A	rs142876545		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:103335273C>A	ENST00000258436.5	-	6	1074	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	344					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CTTGTACAGCCGTAGGATTGG	0.622000													20	86					5.26018e-13	6.4381e-13	1	1	0
PHF14	9678	broad.mit.edu	37	7	11022137	11022137	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:11022137C>T	ENST00000403050.3	+	3	703	c.251C>T	c.(250-252)tCt>tTt	p.S84F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	84	Glu/Lys-rich.						zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTTAAAAATTCTGCAGAGGAA	0.303000													7	13					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	143000898	143000898	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:143000898A>T	ENST00000310447.5	+	9	1230	c.989A>T	c.(988-990)gAc>gTc	p.D330V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	330					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CGTGGGGTTGACCAACAAGAT	0.522000													18	17					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397132	125397132	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:125397132C>G	ENST00000536769.1	-	1	2762	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	UBC_ENST00000546120.1_Missense_Mutation_p.E320Q|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.E396Q			P0CG48	UBC_HUMAN	ubiquitin C	396	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCCACCTCGAGAGTGATG	0.522000													90	227					0	0	1	0	0
IL25	64806	broad.mit.edu	37	14	23842408	23842408	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:23842408C>A	ENST00000329715.2	+	1	339	c.81C>A	c.(79-81)gtC>gtA	p.V27V	IL25_ENST00000397242.2_Silent_p.V11V	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	27					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TGGCAATGGTCATGGGAACCC	0.587000													25	51					3.08376e-08	3.52149e-08	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248004380	248004380	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:248004380G>T	ENST00000355784.2	-	1	874	c.819C>A	c.(817-819)atC>atA	p.I273I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGACAGAAATGATCTTGTTGA	0.473000													14	74					3.27435e-08	3.72133e-08	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70954753	70954753	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:70954753T>C	ENST00000393567.2	-	46	7676	c.7526A>G	c.(7525-7527)aAg>aGg	p.K2509R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2509										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ctcccGGTCCTTGCGGCCCCT	0.701000													10	10					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355380	34355380	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:34355380C>A	ENST00000383263.5	+	3	1132	c.462C>A	c.(460-462)gcC>gcA	p.A154A	CHRM5_ENST00000557872.1_Silent_p.A154A	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	154					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTGGCTTGGCCTGGCTGATCT	0.527000													54	58					4.86159e-25	6.74593e-25	1	1	0
PAX6	5080	broad.mit.edu	37	11	31815013	31815013	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:31815013G>A	ENST00000419022.1	-	12	1515	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	PAX6_ENST00000379115.4_Silent_p.F349F|PAX6_ENST00000241001.8_Silent_p.F335F|PAX6_ENST00000379111.2_Silent_p.F335F|PAX6_ENST00000379129.2_Silent_p.F349F|PAX6_ENST00000379107.2_Silent_p.F349F|PAX6_ENST00000379123.5_Silent_p.F335F|PAX6_ENST00000379132.3_Silent_p.F335F	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	335	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTGCCATGGTGAAGCTGGGCA	0.587000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				66	98					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397847	76397847	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:76397847C>G	ENST00000284142.6	-	1	269	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	44					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCCTTGGTTCGTAACAGTGA	0.398000													33	129					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752630	36752630	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:36752630C>A	ENST00000354618.5	+	4	1023	c.799C>A	c.(799-801)Cct>Act	p.P267T	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617000			T	USP6	aneurysmal bone cysts								73	126					1.14856e-27	1.61249e-27	1	1	0
SPATA19	219938	broad.mit.edu	37	11	133712379	133712379	+	Splice_Site	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:133712379C>T	ENST00000299140.3	-	5	492		c.e5+1		SPATA19_ENST00000532889.1_Splice_Site	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AAACAGCTTACCTTCGTCTCA	0.527000													32	130					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84610202	84610202	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:84610202C>G	ENST00000370685.3	+	1	249	c.158C>G	c.(157-159)tCt>tGt	p.S53C	PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000470673.1_3'UTR	NM_001242862.1|NM_182948.2	NP_001229791.1|NP_891993.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	0	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CTTCATTTCTCTGAACATACT	0.348000													86	114					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148674930	148674930	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:148674930G>C	ENST00000241416.7	+	6	1387	c.751G>C	c.(751-753)Ggt>Cgt	p.G251R	ACVR2A_ENST00000535787.1_Missense_Mutation_p.G143R|ACVR2A_ENST00000404590.1_Missense_Mutation_p.G251R	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	251	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ACAGTTCATTGGTGCAGAAAA	0.368000													15	28					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25179980	25179980	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:25179980C>T	ENST00000264711.2	-	5	649	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DNAJC27_ENST00000534855.1_Missense_Mutation_p.E83K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	154					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTTTGCTTTCAGCCCAAAGA	0.418000													23	122					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428947	120428947	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:120428947C>A	ENST00000222747.3	-	8	1224	c.617G>T	c.(616-618)tGt>tTt	p.C206F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.C206F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	206					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTTCTTCCCACAACCCTGTAA	0.373000													12	43					5.50884e-06	5.97625e-06	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94935680	94935680	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:94935680G>A	ENST00000337425.5	-	2	626	c.552C>T	c.(550-552)tcC>tcT	p.S184S	SERPINA9_ENST00000380365.3_Silent_p.S166S|SERPINA9_ENST00000546329.1_Silent_p.S148S|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.S86S|SERPINA9_ENST00000424550.2_Silent_p.S35S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	166					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGAGGGGTTGGAGAAATCTG	0.498000													32	157					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4837625	4837625	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:4837625G>A	ENST00000379333.1	-	17	2338	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	SLC23A2_ENST00000424750.2_Missense_Mutation_p.T535M|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T649M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	649					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGCTATCCCGTGGCCTGGGA	0.502000													23	114					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61341214	61341214	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:61341214G>T	ENST00000370501.3	+	1	1026	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	219						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCCAGCACGCCGGCGGCCT	0.662000													16	53					5.35267e-07	5.92351e-07	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90180521	90180521	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:90180521G>A	ENST00000370454.4	+	3	2647	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	798						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGACGTCCGGGAGCAAATGAA	0.413000													10	74					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712242	101712242	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:101712242C>T	ENST00000251127.6	-	42	4914	c.4833G>A	c.(4831-4833)ccG>ccA	p.P1611P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1611						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P1611P(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGATGCTGGGCGGGTTCAGAA	0.552000													3	64					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75932977	75932977	+	Silent	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:75932977A>G	ENST00000274364.6	+	16	2196	c.1899A>G	c.(1897-1899)tcA>tcG	p.S633S	IQGAP2_ENST00000502745.1_Silent_p.S186S|IQGAP2_ENST00000379730.3_Silent_p.S192S|IQGAP2_ENST00000396234.3_Silent_p.S186S	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	633					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)		ATAAAGAATCATGGCTCACAG	0.373000													28	51					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72247483	72247483	+	Missense_Mutation	SNP	G	G	A	rs138535410		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:72247483G>A	ENST00000582365.1	+	9	1222	c.1156G>A	c.(1156-1158)Gca>Aca	p.A386T	CNDP1_ENST00000358821.3_Missense_Mutation_p.A429T			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	429					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCAGTATCTCGCAGCAAAAAG	0.483000													10	70					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596357	58596357	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:58596357C>A	ENST00000240727.6	-	7	1627	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G274W|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G410W|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G466W	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	410					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGGGCTTCCCGCGGGACAAG	0.731000													7	11					5.18039e-06	5.63702e-06	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71895993	71895993	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:71895993C>A	ENST00000373545.3	-	6	983	c.545G>T	c.(544-546)gGg>gTg	p.G182V	PHKA1_ENST00000373539.3_Missense_Mutation_p.G182V|PHKA1_ENST00000339490.3_Missense_Mutation_p.G182V|PHKA1_ENST00000373542.4_Missense_Mutation_p.G182V|PHKA1_ENST00000541944.1_Missense_Mutation_p.G182V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	182					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCCCATATCCCGAAGTCCTG	0.388000													18	25					1.50039e-11	1.79946e-11	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34049354	34049354	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:34049354G>A	ENST00000373381.4	-	47	7304	c.7128C>T	c.(7126-7128)ccC>ccT	p.P2376P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2378	CUB 14.					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)				TCTGGAACTGGGGATAGCTTC	0.512000													12	146					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10132275	10132275	+	Splice_Site	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:10132275G>A	ENST00000324907.9	+	11	1597		c.e11+1		GRHL1_ENST00000324883.5_Splice_Site|GRHL1_ENST00000405379.2_Splice_Site	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGGCACTCATGTAGGTAACCA	0.463000													13	50					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898459	127898459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:127898459C>A	ENST00000329722.7	+	1	141	c.129C>A	c.(127-129)taC>taA	p.Y43*	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	43						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCAGTGACTACAGGGTGGAGA	0.453000													59	72					3.40165e-17	4.37268e-17	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056141	26056141	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:26056141C>G	ENST00000343677.2	-	1	558	c.516G>C	c.(514-516)aaG>aaC	p.K172N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	172					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTTGGGCTCTTAGCCACTT	0.562000													59	268					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14501801	14501801	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:14501801G>A	ENST00000242786.5	+	4	336	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.E86K|CD97_ENST00000357355.3_Missense_Mutation_p.E86K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	86	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGGAACACAGAGGGGAGCTA	0.517000													15	71					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893302	75893302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:75893302G>T	ENST00000274364.6	+	10	1243	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	316					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)		TGTCATTCCGGAAGGTGACCC	0.517000													17	35					2.94398e-08	3.37263e-08	1	1	0
CHD1L	9557	broad.mit.edu	37	1	146758091	146758091	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:146758091C>T	ENST00000369258.4	+	18	2155	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L	CHD1L_ENST00000361293.5_Missense_Mutation_p.P431L|CHD1L_ENST00000369259.3_Missense_Mutation_p.P508L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.P618L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	712	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACCAAGACCCAGATGCTACT	0.552000													90	142					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164743	26164743	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:26164743C>A	ENST00000335473.7	+	4	1110	c.860C>A	c.(859-861)gCa>gAa	p.A287E	MYO18B_ENST00000407587.2_Missense_Mutation_p.A287E|MYO18B_ENST00000536101.1_Missense_Mutation_p.A287E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	287						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						AAGGAGGGAGCAGAGCCCACA	0.617000													5	15					1.23904e-05	1.33406e-05	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284048	159284048	+	Silent	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:159284048T>G	ENST00000332217.5	-	1	401	c.402A>C	c.(400-402)tcA>tcC	p.S134S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCATGATGACTGAATACCTTA	0.512000													15	124					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51323187	51323187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:51323187C>A	ENST00000448701.2	-	5	1619	c.295G>T	c.(295-297)Gga>Tga	p.G99*	KLK1_ENST00000301420.2_Nonsense_Mutation_p.G201*			P06870	KLK1_HUMAN	kallikrein 1	201	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAGGTGTCCGACACACAGC	0.552000													3	60					0.150653	0.152141	1	1	0
RIF1	55183	broad.mit.edu	37	2	152315377	152315377	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:152315377G>C	ENST00000243326.4	+	24	3391	c.2908G>C	c.(2908-2910)Gaa>Caa	p.E970Q	RIF1_ENST00000428287.2_Missense_Mutation_p.E970Q|RIF1_ENST00000430328.2_Missense_Mutation_p.E970Q|RIF1_ENST00000444746.2_Missense_Mutation_p.E970Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E970Q			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	970					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCTGGTTTGGAAACTGTTGA	0.348000													16	39					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7992648	7992648	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:7992648G>A	ENST00000270538.3	-	12	1401	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	378					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTTGCCCATGGCCAGCTGCAG	0.652000													4	46					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762682	130762682	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:130762682T>C	ENST00000392429.1	+	2	3493	c.1115T>C	c.(1114-1116)cTc>cCc	p.L372P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.L372P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.L372P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	372						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTGGACAGCTCTTGTCTCCT	0.542000													5	54					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45007682	45007682	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:45007682G>A	ENST00000558401.1	+	2	199	c.129G>A	c.(127-129)ctG>ctA	p.L43L	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Silent_p.L43L|B2M_ENST00000544417.1_Silent_p.L43L	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	43	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CAAATTTCCTGAATTGCTATG	0.403000													31	98					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551170	25551170	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:25551170G>A	ENST00000329474.6	+	27	2729	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	787					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGCTGCTGAGAATCTTTGTC	0.458000													37	202					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810776	47810776	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:47810776C>G	ENST00000285106.6	-	9	1891	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H	CXXC1_ENST00000412036.2_Missense_Mutation_p.D397H|CXXC1_ENST00000589940.1_Missense_Mutation_p.D393H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	393					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCACAGTCATCTGAGCAATAC	0.607000													36	170					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392777	22392777	+	RNA	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:22392777C>A	ENST00000390440.2	+	0	375																											TTGTCATCTCCGCTTCACAAC	0.483000													43	136					6.68952e-21	8.936e-21	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55359071	55359071	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:55359071G>A	ENST00000536015.1	-	12	1307	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L396L|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	396					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCATGGTGTTGAGAACAATGA	0.463000													16	67					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080322	29080322	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:29080322A>T	ENST00000377169.1	+	1	655	c.655A>T	c.(655-657)Act>Tct	p.T219S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTCATTCTCACTTCTTATGG	0.458000													39	86					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917817	48917817	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:48917817G>A	ENST00000311378.4	+	2	1696	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A297T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	390	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGCCTGCCCGCCCTGCAGGG	0.657000													18	64					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71037196	71037196	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:71037196C>T	ENST00000318789.4	-	14	1620	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	FOXP1_ENST00000484350.1_Missense_Mutation_p.M289I|FOXP1_ENST00000491238.1_Missense_Mutation_p.M367I|FOXP1_ENST00000468577.1_Missense_Mutation_p.M365I|FOXP1_ENST00000475937.1_Missense_Mutation_p.M365I|FOXP1_ENST00000498215.1_Missense_Mutation_p.M365I|FOXP1_ENST00000493089.1_Missense_Mutation_p.M365I	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	365	Leucine-zipper.				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)		GGTGGGTCATCATGGCTTGCA	0.438000			T	PAX5	ALL								73	175					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128819695	128819695	+	Nonstop_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:128819695G>T	ENST00000270861.5	+	16	3186	c.2912G>T	c.(2911-2913)tGa>tTa	p.*971L	PLK4_ENST00000515069.1_Nonstop_Mutation_p.*893L|PLK4_ENST00000514379.1_Nonstop_Mutation_p.*930L|PLK4_ENST00000513090.1_Nonstop_Mutation_p.*939L|PLK4_ENST00000507249.1_Nonstop_Mutation_p.*910L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	0					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AATTTTCATTGATTAAAACTC	0.274000													7	31					8.12818e-05	8.6219e-05	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103355111	103355111	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:103355111G>T	ENST00000358392.2	-	59	4717	c.4400C>A	c.(4399-4401)cCt>cAt	p.P1467H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1455	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATTAAACCAGGATGTCCCTT	0.393000													45	45					4.06502e-11	4.83481e-11	1	1	0
IBSP	3381	broad.mit.edu	37	4	88731901	88731901	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:88731901C>A	ENST00000226284.5	+	6	457	c.390C>A	c.(388-390)atC>atA	p.I130I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	130	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAGCTGCAATCCAGCTTCCCA	0.398000													33	58					1.74807e-11	2.09301e-11	1	1	0
SUN2	25777	broad.mit.edu	37	22	39138464	39138464	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:39138464G>A	ENST00000405510.1	-	10	1268	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	SUN2_ENST00000216064.4_Missense_Mutation_p.R304W|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.R304W|SUN2_ENST00000405018.1_Missense_Mutation_p.R325W|SUN2_ENST00000411587.2_Missense_Mutation_p.R293W	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	304					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CGTTCCAGCCGCATGGCCTCC	0.642000													4	56					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107744992	107744992	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:107744992C>G	ENST00000388781.3	-	9	1026	c.943G>C	c.(943-945)Gat>Cat	p.D315H	LAMB4_ENST00000388780.3_Missense_Mutation_p.D315H|LAMB4_ENST00000205386.4_Missense_Mutation_p.D315H|LAMB4_ENST00000414450.2_Missense_Mutation_p.D315H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	315	Laminin EGF-like 1.				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						CAAGGAGCATCCTGGAAGAAG	0.502000													69	119					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162500	87162500	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:87162500G>A	ENST00000285393.3	+	6	941	c.799G>A	c.(799-801)Gta>Ata	p.V267I	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	267					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GATGAAGAACGTAGCGGATCA	0.473000													22	61					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784213	140784213	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:140784213C>G	ENST00000573521.1	+	1	1694	c.1694C>G	c.(1693-1695)cCt>cGt	p.P565R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTACCCTGCCCTCCCC	0.557000													82	108					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127782985	127782985	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:127782985G>C	ENST00000336505.5	-	7	634	c.576C>G	c.(574-576)ctC>ctG	p.L192L	SCAI_ENST00000373549.4_Silent_p.L215L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	192	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CCATTTTGTTGAGAAGAAGAC	0.264000													3	48					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495388	149495388	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:149495388C>G	ENST00000261799.4	-	23	3728	c.3259G>C	c.(3259-3261)Gaa>Caa	p.E1087Q		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1087					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAACTGTTCCAGCTCTGGC	0.672000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								11	38					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821695	21821695	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:21821695C>T	ENST00000216297.2	-	25	3288	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	984	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCACTCTCTTCTTCACTACCC	0.368000													21	75					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581150	1581150	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:1581150A>G	ENST00000421627.2	+	5	1642	c.1508A>G	c.(1507-1509)gAt>gGt	p.D503G		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	582					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACTCCCAAGATGACGAATGT	0.547000													20	55					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102584721	102584721	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:102584721C>A	ENST00000370296.2	+	10	1703	c.1153C>A	c.(1153-1155)Ccc>Acc	p.P385T	PAX2_ENST00000428433.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.P362T			Q02962	PAX2_HUMAN	paired box 2	0					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGCAGAAGTGCCCCCTTGTGT	0.602000													42	48					8.20599e-20	1.08805e-19	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47532404	47532404	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:47532404C>G	ENST00000300527.4	+	3	731	c.627C>G	c.(625-627)caC>caG	p.H209Q	COL6A2_ENST00000310645.5_Missense_Mutation_p.H209Q|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.H209Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.H209Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.H209Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	209	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCACGCCGCACGAGCTCTACC	0.677000													14	31					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125221210	125221210	+	Silent	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:125221210A>G	ENST00000298282.9	+	4	280	c.9A>G	c.(7-9)caA>caG	p.Q3Q	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_5'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	3						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCATGATGCAACATGCCTCCC	0.662000													3	15					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388958	1388958	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:1388958G>T	ENST00000324385.5	+	3	450	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	BAIAP3_ENST00000397488.2_Missense_Mutation_p.G63W|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G63W|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G63W|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G63W	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	98					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCTGAAGAAGGGGGAAGGCAG	0.657000													29	131					3.57733e-08	4.0528e-08	1	1	0
PREX1	57580	broad.mit.edu	37	20	47296264	47296264	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr20:47296264C>A	ENST00000396220.1	-	12	1486	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PREX1_ENST00000371941.3_Missense_Mutation_p.E488D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	488	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACATCACCTGCTCATTCTTGA	0.617000													49	107					1.03172e-35	1.49235e-35	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26306940	26306940	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:26306940C>A	ENST00000335473.7	+	33	5537	c.5287C>A	c.(5287-5289)Caa>Aaa	p.Q1763K	MYO18B_ENST00000407587.2_Missense_Mutation_p.Q1764K|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q1763K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1763	Gln-rich.|Tail.					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						GCAGCTGGAGCAAGAGTATGA	0.498000													4	11					1.23904e-05	1.33406e-05	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31862811	31862811	+	Silent	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:31862811A>T	ENST00000396184.3	-	15	1662	c.1458T>A	c.(1456-1458)tcT>tcA	p.S486S	PDE1C_ENST00000396182.2_Silent_p.S486S|PDE1C_ENST00000321453.7_Silent_p.S486S|PDE1C_ENST00000396191.1_Silent_p.S486S|PDE1C_ENST00000396193.1_Silent_p.S546S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	486	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCTCTGAACCAGAGGTCTTGA	0.438000													28	83					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73578328	73578328	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:73578328G>T	ENST00000261973.7	+	16	2395	c.2110G>T	c.(2110-2112)Gat>Tat	p.D704Y	RBM25_ENST00000527432.1_Missense_Mutation_p.D704Y|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	704					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGAAGACAGTGATGACGTACC	0.398000													28	101					4.22769e-11	5.01995e-11	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934682	30934682	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:30934682C>A	ENST00000355537.3	+	2	360	c.213C>A	c.(211-213)ccC>ccA	p.P71P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	71					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)					CCCACGTGCCCATGAGCGGCC	0.682000													40	44					3.78316e-11	4.50706e-11	1	1	0
YTHDC1	91746	broad.mit.edu	37	4	69195743	69195743	+	Silent	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:69195743G>C	ENST00000344157.4	-	9	1661	c.1326C>G	c.(1324-1326)gtC>gtG	p.V442V	YTHDC1_ENST00000355665.3_Silent_p.V424V|YTHDC1_ENST00000579690.1_Silent_p.V442V	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	442	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CAATTTTAAAGACACCTCCCA	0.368000													9	33					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:156618630G>A	ENST00000329117.4	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572000													41	208					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67560954	67560954	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:67560954G>A	ENST00000371007.2	-	7	676	c.567C>T	c.(565-567)gtC>gtT	p.V189V	C1orf141_ENST00000544837.1_Silent_p.V189V|C1orf141_ENST00000371006.1_Silent_p.V189V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	189			V -> I (in dbSNP:rs11208997).							NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GACTAACGTTGACTATCTTGG	0.348000													14	12					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149851	11149851	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:11149851C>G	ENST00000538986.1	-	1	623	c.624G>C	c.(622-624)aaG>aaC	p.K208N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	208					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGAGCTGCATCTTCTTCAGAT	0.428000													46	162					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521544	11521544	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:11521544G>T	ENST00000423059.3	-	7	2139	c.1888C>A	c.(1888-1890)Cca>Aca	p.P630T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	630						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCGGGCATGGGGCATCACAG	0.532000										HNSCC(18;0.044)			11	56					3.86212e-05	4.12113e-05	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133664099	133664099	+	Nonsense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:133664099G>C	ENST00000310926.4	-	10	1574	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S358*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	434					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TATAGAACTTGATGTGCTGCC	0.527000													111	115					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46053442	46053442	+	Splice_Site	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:46053442G>T	ENST00000295452.4	-	8	1297	c.1131_splice	c.e8+1	p.S377_splice		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	377					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S377*(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAACATACCGAGGCTTTATT	0.318000													3	10					0.115264	0.116897	1	1	0
FUT1	2523	broad.mit.edu	37	19	49253951	49253951	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:49253951C>G	ENST00000310160.3	-	4	1562	c.588G>C	c.(586-588)caG>caC	p.Q196H		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	196					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.Q196Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGCACACTCTGCGCCTCTT	0.642000													66	199					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616556	92616556	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:92616556G>C	ENST00000298047.6	+	23	12951	c.12934G>C	c.(12934-12936)Gag>Cag	p.E4312Q	FAT3_ENST00000533797.1_Missense_Mutation_p.E647Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E4162Q|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.E4312Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4312					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGCGGGAACTGAGAGTGAGTA	0.652000										TCGA Ovarian(4;0.039)			21	38					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936450	30936450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:30936450G>T	ENST00000355537.3	+	2	2128	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	661					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)					CAAGGGCGAGGAGGATGGGCT	0.692000													23	89					2.39556e-15	2.983e-15	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38881668	38881668	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:38881668C>T	ENST00000359357.3	+	65	9506	c.9252C>T	c.(9250-9252)ctC>ctT	p.L3084L	DNAH8_ENST00000449981.2_Silent_p.L3301L|DNAH8_ENST00000441566.1_Silent_p.L3048L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGCTAAACTCTCTCAGGATC	0.373000													17	72					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38095710	38095710	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:38095710C>T	ENST00000397166.2	+	5	1130	c.605C>T	c.(604-606)tCt>tTt	p.S202F	DDHD2_ENST00000520272.2_Missense_Mutation_p.S202F	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	202					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGAACATCTCTGTTGACATT	0.408000													10	61					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548952	52548952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:52548952G>C	ENST00000242839.4	-	2	560	c.404C>G	c.(403-405)tCa>tGa	p.S135*	ATP7B_ENST00000344297.5_Nonsense_Mutation_p.S135*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.S135*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.S135*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.S135*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.S135*|ATP7B_ENST00000542656.1_Nonsense_Mutation_p.S103*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	135					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAAGGACCTTGAGGGCCAGGA	0.587000									Wilson disease				5	68					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	25					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049797	36049797	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr13:36049797A>G	ENST00000379919.4	-	1	1035	c.479T>C	c.(478-480)cTg>cCg	p.L160P	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	160					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCGGATTCTCAGTTTCACTTC	0.562000													12	53					0	0	1	0	0
APOLD1	81575	broad.mit.edu	37	12	12940506	12940506	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:12940506C>G	ENST00000356591.4	+	2	752	c.667C>G	c.(667-669)Cgg>Ggg	p.R223G	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Missense_Mutation_p.R254G	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	254					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		GCTGGAGTCTCGGGTTCAGCT	0.587000													30	70					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811833	13811833	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:13811833C>G	ENST00000265104.4	-	44	7434	c.7330G>C	c.(7330-7332)Gaa>Caa	p.E2444Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2444					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTTGTATTCTAAGTTCTGG	0.443000									Kartagener syndrome				16	108					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536982	146536982	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:146536982G>C	ENST00000361727.3	+	3	904	c.388G>C	c.(388-390)Gat>Cat	p.D130H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	130	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTATCATCAAGATGGGAATAT	0.423000										HNSCC(39;0.1)			6	41					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45375052	45375052	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:45375052T>A	ENST00000402690.2	-	8	1185	c.791A>T	c.(790-792)cAg>cTg	p.Q264L	SMAD2_ENST00000356825.4_Missense_Mutation_p.Q234L|SMAD2_ENST00000586040.1_Missense_Mutation_p.Q234L|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q234L|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q264L	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	264					anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AGTAACTGGCTGTAAATCTGA	0.328000													39	40					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278533	185278533	+	Translation_Start_Site	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:185278533G>T	ENST00000392007.3	-	0	323				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.F31L|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.F31L			Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GAACATCACAGAACTGGCCAC	0.294000													20	69					3.08376e-08	3.52149e-08	1	1	0
RHEB	6009	broad.mit.edu	37	7	151167735	151167735	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:151167735C>A	ENST00000262187.5	-	7	796	c.384G>T	c.(382-384)gtG>gtT	p.V128V	RHEB_ENST00000472642.1_Silent_p.V23V|RHEB_ENST00000496004.1_Silent_p.V23V	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	128					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		CATAACTGATCACCCTAAAGA	0.308000													8	39					0.27861	0.279	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58621689	58621689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:58621689G>A	ENST00000317147.5	-	4	636	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q102*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q102*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	102					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAACCTTCTGATAGTGCAAT	0.363000													18	60					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108070936	108070936	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:108070936G>C	ENST00000369022.2	-	2	273	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	SCML4_ENST00000369020.3_Missense_Mutation_p.Q80E|SCML4_ENST00000369021.3_Missense_Mutation_p.Q51E			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCTGCGTCCTGAGGGATGGAG	0.602000													27	83					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728833	127728833	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:127728833C>A	ENST00000508053.1	-	16	2434	c.1460G>T	c.(1459-1461)gGa>gTa	p.G487V	FBN2_ENST00000262464.4_Missense_Mutation_p.G487V|FBN2_ENST00000508989.1_Missense_Mutation_p.G454V			P35556	FBN2_HUMAN	fibrillin 2	487					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACTTAGTCCAGTGATGAT	0.488000													48	59					1.67211e-32	2.38018e-32	1	1	0
IL16	3603	broad.mit.edu	37	15	81592345	81592345	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:81592345C>A	ENST00000394660.2	+	14	3038	c.2678C>A	c.(2677-2679)cCc>cAc	p.P893H	IL16_ENST00000302987.4_Missense_Mutation_p.P893H|IL16_ENST00000394652.2_Missense_Mutation_p.P192H|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	893					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGGGCTGCACCCACTCTTGTG	0.642000													66	67					9.40535e-28	1.32303e-27	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70599027	70599027	+	Silent	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr16:70599027A>T	ENST00000302516.5	+	19	2734	c.2523A>T	c.(2521-2523)gcA>gcT	p.A841A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	841					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGCAGCAGCATTCCTCAATG	0.537000													33	70					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6668361	6668361	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:6668361A>G	ENST00000274192.5	+	5	994	c.760A>G	c.(760-762)Ata>Gta	p.I254V	SRD5A1_ENST00000538824.1_Missense_Mutation_p.I207V|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	254					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CAGAAAAATTATAATTCCATT	0.299000													59	26					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72267446	72267446	+	RNA	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:72267446C>A	ENST00000438125.1	-	0	427							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CATAATTTTGCCCAAATCTTC	0.418000													34	76					1.26612e-14	1.56841e-14	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22849741	22849741	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:22849741G>C	ENST00000400546.1	+	15	2275	c.2026G>C	c.(2026-2028)Gaa>Caa	p.E676Q	NCAM2_ENST00000284894.7_Missense_Mutation_p.E534Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	676	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGGATATTCTGAACCGACAGT	0.368000													31	77					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26099489	26099489	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr22:26099489C>G	ENST00000324198.5	+	14	1365	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	391	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACAGCCCTTTCAGACAACATA	0.353000													26	87					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495084	71495084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:71495084G>T	ENST00000296755.7	+	5	6200	c.5902G>T	c.(5902-5904)Gaa>Taa	p.E1968*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1968						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)		CAGCCCCCCCGAAGTGAGTGG	0.478000													16	115					4.7546e-09	5.50857e-09	1	1	0
MACF1	23499	broad.mit.edu	37	1	39782975	39782975	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:39782975G>C	ENST00000564288.1	+	29	4455	c.3678G>C	c.(3676-3678)atG>atC	p.M1226I	MACF1_ENST00000317713.7_Missense_Mutation_p.M1231I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.M1231I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1231I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1231I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1263I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1231I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1231					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAGCAGATGAGTCGTCTGA	0.517000													14	50					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143053718	143053718	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:143053718G>A	ENST00000409408.1	-	6	2632	c.924C>T	c.(922-924)ctC>ctT	p.L308L	FAM131B_ENST00000409222.3_Silent_p.L308L|FAM131B_ENST00000409346.1_Silent_p.L308L|FAM131B_ENST00000443739.2_Silent_p.L336L|FAM131B_ENST00000409578.1_Silent_p.L324L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	308										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTTCCGGCTGAGAGCGGTAG	0.582000													66	231					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044405	90044405	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:90044405G>T	ENST00000462693.1	+	0	356																											GAGGATGTCGGGGTTTATTAC	0.527000													49	217					1.07234e-20	1.42979e-20	1	1	0
EFCAB11	90141	broad.mit.edu	37	14	90397947	90397947	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:90397947G>A	ENST00000316738.7	-	5	376	c.348C>T	c.(346-348)ttC>ttT	p.F116F	EFCAB11_ENST00000555872.1_Silent_p.F92F|EFCAB11_ENST00000267544.9_Silent_p.F53F|EFCAB11_ENST00000556609.1_Silent_p.F68F|EFCAB11_ENST00000538485.2_Silent_p.F116F|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000550103.2_5'UTR|EFCAB11_ENST00000556005.1_Silent_p.F92F	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	116	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)	2						ATGCTTTTTTGAAATCTTCCA	0.343000													17	66					0	0	1	0	0
CDKN2D	1032	broad.mit.edu	37	19	10677786	10677786	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:10677786C>T	ENST00000393599.2	-	2	773	c.449G>A	c.(448-450)gGg>gAg	p.G150E	CDKN2D_ENST00000335766.2_Missense_Mutation_p.G150E	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	150					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.G150L(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GTCCTGAGCCCCTCTCTGCAG	0.612000													23	38					0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190617612	190617612	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:190617612G>A	ENST00000519810.1	-	7	1399	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.P353S|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.P353S			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	353					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CATAGTCTGGGAGGAGGACAC	0.403000													19	64					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861155	55861155	+	Silent	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:55861155A>T	ENST00000302124.2	+	1	403	c.372A>T	c.(370-372)atA>atT	p.I124I	OR8I2_ENST00000560768.1_Silent_p.I124I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	124			I -> V (in dbSNP:rs17603011).		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)					ATCGCTACATAGCAATCTGCA	0.438000													97	63					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86693692	86693692	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:86693692G>C	ENST00000409556.1	+	11	1570	c.1205G>C	c.(1204-1206)aGa>aCa	p.R402T	KDM3A_ENST00000542128.1_Missense_Mutation_p.R350T|KDM3A_ENST00000409064.1_Missense_Mutation_p.R402T|KDM3A_ENST00000312912.5_Missense_Mutation_p.R402T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	402					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAGGAAAACAGATTGGAGTCT	0.448000													61	205					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364205	142364205	+	RNA	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:142364205G>T	ENST00000390397.2	+	0	8																											TCCAGAGCTGGAAACACCTCC	0.512000													5	20					0.00116845	0.00120897	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111508150	111508150	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:111508150C>A	ENST00000428084.1	-	22	2442	c.2170G>T	c.(2170-2172)Ggt>Tgt	p.G724C	DOCK4_ENST00000437633.1_Missense_Mutation_p.G724C|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	724					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTTGCCCACCAGTGGCAAGG	0.413000													16	20					4.75885e-15	5.91551e-15	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124270370	124270370	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:124270370G>C	ENST00000409039.3	+	9	1150	c.1125G>C	c.(1123-1125)tgG>tgC	p.W375C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	375	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGTGTGGATCATCTCCC	0.577000													23	81					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70964822	70964822	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:70964822G>A	ENST00000334414.6	-	13	3398	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	PTPRB_ENST00000550358.1_Silent_p.F1030F|PTPRB_ENST00000538708.1_Silent_p.F900F|PTPRB_ENST00000551525.1_Silent_p.F1117F|PTPRB_ENST00000550857.1_Silent_p.F810F|PTPRB_ENST00000261266.5_Silent_p.F900F|PTPRB_ENST00000451516.2_Silent_p.F810F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	900	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCCTCAATGAAGGCTGACT	0.433000													13	35					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783636	8783636	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:8783636G>C	ENST00000359865.3	+	6	668	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	SOGA2_ENST00000400050.3_Missense_Mutation_p.E176Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E176Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E536Q|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	527																	GCTGGAGCAGGAGCTCCAGAA	0.612000													7	15					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474343	119474343	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:119474343G>A	ENST00000369429.3	-	2	327	c.318C>T	c.(316-318)gcC>gcT	p.A106A	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	106						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGGAAGACATGGCAGCAGGCA	0.542000													23	29					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50587104	50587104	+	Splice_Site	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:50587104T>C	ENST00000216373.5	-	22	3654		c.e22-2		SOS2_ENST00000543680.1_Splice_Site	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGAAAGACTCTGGGGGAGAAA	0.378000													5	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617657	77617657	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:77617657G>A	ENST00000521891.2	+	2	1782	c.1334G>A	c.(1333-1335)tGt>tAt	p.C445Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.C445Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C445Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.C445Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	445						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGAACAACTGTGAAAGGCCA	0.478000										HNSCC(33;0.089)			18	14					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983578	2983578	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:2983578C>T	ENST00000342628.2	-	2	180	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	FOXM1_ENST00000361953.3_Missense_Mutation_p.A23T|FOXM1_ENST00000359843.3_Missense_Mutation_p.A23T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	23					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCACTTGGGGCATTTTGAACA	0.502000													36	124					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583533	7583533	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:7583533G>T	ENST00000379802.3	+	24	6379	c.6038G>T	c.(6037-6039)cGg>cTg	p.R2013L	DSP_ENST00000418664.2_Missense_Mutation_p.R1414L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCATTCCTTCGGGGTGCAGGA	0.453000													56	85					3.21867e-24	4.42501e-24	1	1	0
HOXB6	3216	broad.mit.edu	37	17	46674007	46674007	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:46674007C>A	ENST00000484302.2	-	3	1065	c.443G>T	c.(442-444)cGa>cTa	p.R148L	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.R148L|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA			P17509	HXB6_HUMAN	homeobox B6	148					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTGGCGGCCTCGCCGGCCGCT	0.652000													27	102					4.72057e-08	5.32272e-08	1	1	0
OR10G2	26534	broad.mit.edu	37	14	22102429	22102429	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:22102429C>A	ENST00000542433.1	-	1	667	c.570G>T	c.(568-570)ttG>ttT	p.L190F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGCCAGTCTCAATACTGCGC	0.532000													67	145					1.34568e-36	1.95041e-36	1	1	0
RCAN1	1827	broad.mit.edu	37	21	35890510	35890510	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:35890510C>T	ENST00000481448.1	-	5	1087	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	RCAN1_ENST00000381135.3_Missense_Mutation_p.V201M|RCAN1_ENST00000399272.1_Missense_Mutation_p.V130M|RCAN1_ENST00000381132.2_Missense_Mutation_p.V156M|RCAN1_ENST00000487990.1_Missense_Mutation_p.V76M|RCAN1_ENST00000482533.1_Missense_Mutation_p.V76M|RCAN1_ENST00000313806.4_Missense_Mutation_p.V211M|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Missense_Mutation_p.V76M			P53805	RCAN1_HUMAN	regulator of calcineurin 1	211					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGACCACCACGCTGGGAGTG	0.488000													18	81					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77228059	77228059	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:77228059G>T	ENST00000394885.3	+	3	666	c.443G>T	c.(442-444)aGg>aTg	p.R148M	RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.R148M	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	148						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GAGTCCTTTAGGAAGGTGAGT	0.428000													46	55					4.64027e-19	6.10741e-19	1	1	0
KRT2	3849	broad.mit.edu	37	12	53044263	53044263	+	Silent	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:53044263G>T	ENST00000309680.3	-	2	681	c.660C>A	c.(658-660)acC>acA	p.T220T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	220	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGATGGGGCGGGTGCCAACAT	0.517000													45	98					1.47857e-17	1.91439e-17	1	1	0
SIX2	10736	broad.mit.edu	37	2	45236244	45236244	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:45236244G>A	ENST00000303077.6	-	1	325	c.6C>T	c.(4-6)tcC>tcT	p.S2S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	2						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGGCAGCATGGACATGGTGC	0.746000													10	5					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116957	106116957	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:106116957G>T	ENST00000357242.5	+	21	3299	c.3125G>T	c.(3124-3126)gGa>gTa	p.G1042V	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G1036V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1042						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						TCAGCCAAAGGATTCTCTGGT	0.458000													26	93					2.50493e-22	3.39684e-22	1	1	0
TRPC3	7222	broad.mit.edu	37	4	122833067	122833067	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:122833067G>T	ENST00000264811.5	-	4	1722	c.1304C>A	c.(1303-1305)aCa>aAa	p.T435K	TRPC3_ENST00000513531.1_Missense_Mutation_p.T380K|TRPC3_ENST00000379645.3_Missense_Mutation_p.T508K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	423					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCAGTCCATGTAAACTGGGT	0.373000													34	84					4.3181e-19	5.69385e-19	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5237123	5237123	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:5237123G>C	ENST00000274181.7	+	14	2203	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	689	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAAGGATTTGATTTCTTCTT	0.343000													5	121					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14207053	14207053	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:14207053G>A	ENST00000285021.7	-	6	868	c.654C>T	c.(652-654)ttC>ttT	p.F218F	XPC_ENST00000449060.2_Silent_p.F181F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	218					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTCGATAGAAGCCATTTG	0.537000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	12					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563287	125563287	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:125563287C>A	ENST00000277309.2	+	1	918	c.886C>A	c.(886-888)Cgc>Agc	p.R296S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCTCTGGAATCGCGATGTACA	0.607000													44	79					3.54909e-21	4.7587e-21	1	1	0
OR1J1	347168	broad.mit.edu	37	9	125240185	125240185	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:125240185G>T	ENST00000259357.2	-	1	50	c.21C>A	c.(19-21)agC>agA	p.S7R		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CGGACACGCTGCTCTGGTTCT	0.537000													15	181					1.49906e-05	1.60918e-05	1	1	0
ZNF530	348327	broad.mit.edu	37	19	58118033	58118033	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:58118033G>A	ENST00000332854.6	+	3	1360	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCCTTATGAGTGTAGTGAAT	0.433000													17	77					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502298	140502298	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:140502298G>A	ENST00000194152.1	+	1	718	c.718G>A	c.(718-720)Gag>Aag	p.E240K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		240	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGCTCCTGAGTTTGTGCA	0.507000													14	95					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235613563	235613563	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:235613563C>G	ENST00000366600.3	-	12	1689	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	487					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ACCGTTCCTTCAGTTTCCACA	0.488000													29	129					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255734	5255734	+	Translation_Start_Site	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:5255734C>A	ENST00000380299.3	-	0	144					NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta						blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGACTCTGCCCTGCCTTTTAT	0.453000											OREG0002368	type=REGULATORY REGION|Gene=HBB gene family|Dataset=CRMs in the HBB locus|EvidenceSubtype=Literature derived	14	20					4.36969e-10	5.14589e-10	1	1	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													4	88					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890738	15890738	+	RNA	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:15890738G>A	ENST00000587443.2	-	0	59					NR_033864.1																						GGGCAGACAGGATGGAGGGTG	0.672000													3	19					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975531	18975531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:18975531C>A	ENST00000406451.3	+	23	3044	c.2894C>A	c.(2893-2895)tCa>tAa	p.S965*	HDAC9_ENST00000401921.1_Nonsense_Mutation_p.S924*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.S968*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.S965*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	965	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGATGCATCAGAAGCCTGT	0.428000													43	157					4.67007e-22	6.30899e-22	1	1	0
RAG2	5897	broad.mit.edu	37	11	36614535	36614535	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:36614535C>A	ENST00000311485.3	-	2	1345	c.1184G>T	c.(1183-1185)gGt>gTt	p.G395V		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	395					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCATCATCACCATCAAAACT	0.398000									Familial Hemophagocytic Lymphohistiocytosis				18	116					5.3912e-06	5.85751e-06	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133187730	133187730	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:133187730C>T	ENST00000388996.4	-	5	1323	c.903G>A	c.(901-903)gaG>gaA	p.E301E	KCNQ3_ENST00000521134.1_Silent_p.E181E|KCNQ3_ENST00000519445.1_Silent_p.E301E	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	301					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCATAGGTCTCAAACTCCT	0.507000													34	97					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16010677	16010677	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:16010677C>T	ENST00000505450.1	-	11	1781	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	PROM1_ENST00000543373.1_Missense_Mutation_p.R390H|PROM1_ENST00000510224.1_Missense_Mutation_p.R399H|PROM1_ENST00000508167.1_Missense_Mutation_p.R390H|PROM1_ENST00000447510.2_Missense_Mutation_p.R399H|PROM1_ENST00000540805.1_Missense_Mutation_p.R399H|PROM1_ENST00000539194.1_Missense_Mutation_p.R399H	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	399					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AATAGGAAGACGCTGAGTTAC	0.353000													3	17					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31242827	31242827	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:31242827G>C	ENST00000407793.2	+	9	1139	c.888G>C	c.(886-888)aaG>aaC	p.K296N	DDX11_ENST00000228264.6_Missense_Mutation_p.K270N|DDX11_ENST00000545668.1_Missense_Mutation_p.K296N|DDX11_ENST00000542838.1_Missense_Mutation_p.K296N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.K296N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	296	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGAGAAGAAGAAAGGAGCTG	0.567000										Multiple Myeloma(12;0.14)			3	18					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224505445	224505445	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:224505445C>T	ENST00000281701.6	-	4	494	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	NVL_ENST00000340871.4_5'UTR|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.E79K|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_5'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	79						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TGTTCATCTTCTAATTCTGTT	0.308000													6	38					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964856	119964856	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:119964856G>T	ENST00000543831.1	+	4	981	c.732G>T	c.(730-732)aaG>aaT	p.K244N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.K244N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	244					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACCCCAAGAAGGCCCCAAGTG	0.507000													24	115					1.22574e-08	1.41325e-08	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26812073	26812073	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:26812073C>A	ENST00000381340.3	-	16	2275	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	620					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCTGAGTAAACTGACAAATGT	0.338000													30	34					1.23537e-32	1.76201e-32	1	1	0
AKT3	10000	broad.mit.edu	37	1	243708818	243708818	+	Silent	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:243708818A>G	ENST00000366539.1	-	12	1445	c.1245T>C	c.(1243-1245)gaT>gaC	p.D415D	AKT3_ENST00000336199.5_Silent_p.D415D|AKT3_ENST00000263826.5_Silent_p.D415D|AKT3_ENST00000366540.1_Silent_p.D415D			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	415	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTACCTTTTTATCATATACAT	0.313000													14	45					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47389641	47389641	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:47389641C>A	ENST00000285039.7	-	29	4199	c.3900G>T	c.(3898-3900)caG>caT	p.Q1300H	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.Q441H	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1300					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCATCCTCCTGGTCAACAT	0.522000													67	79					2.6465e-34	3.81267e-34	1	1	0
C1orf51	148523	broad.mit.edu	37	1	150258956	150258956	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:150258956C>A	ENST00000290363.5	+	5	1197	c.748C>A	c.(748-750)Ctc>Atc	p.L250I	C1orf51_ENST00000369094.1_Missense_Mutation_p.L162I|C1orf51_ENST00000369095.1_Missense_Mutation_p.L250I	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	250										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTTGGCACCTCACACAATG	0.517000													53	177					1.39843e-22	1.91083e-22	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85992336	85992336	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:85992336G>C	ENST00000372105.3	-	4	1240	c.1219C>G	c.(1219-1221)Ctt>Gtt	p.L407V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	407						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AAGTGCTCAAGGGTCAGCTCC	0.607000													43	36					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552452	47552452	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:47552452C>T	ENST00000300527.4	+	28	3150	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	1016	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTCATCCGCTGGATCTG	0.701000													11	23					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302958	179302958	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:179302958T>C	ENST00000356834.3	-	11	1899	c.1862A>G	c.(1861-1863)gAg>gGg	p.E621G	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E621G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	621	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCATGCGCTCGCACAGGGC	0.647000													7	12					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578101	2578101	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:2578101C>T	ENST00000340611.4	-	14	2324	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	690					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTCAGTGCCTCGGTGAGTGGC	0.657000													4	67					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52380549	52380549	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:52380549C>A	ENST00000420592.1	-	5	1602	c.269G>T	c.(268-270)aGt>aTt	p.S90I	ZNF577_ENST00000301399.5_Missense_Mutation_p.S90I|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Missense_Mutation_p.S90I|ZNF577_ENST00000412216.1_Missense_Mutation_p.S90I			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	289	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAGATTTGACTGTGGGCTGC	0.488000													28	91					1.88708e-17	2.43451e-17	1	1	0
GALR2	8811	broad.mit.edu	37	17	74072914	74072914	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:74072914T>C	ENST00000329003.3	+	2	656	c.566T>C	c.(565-567)aTc>aCc	p.I189T		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	189					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCATGGACATCTGCACCTTC	0.682000													19	34					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191933	152191933	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:152191933G>A	ENST00000368801.2	-	3	2247	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	724					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGTAGCCGGAGGAGTGAC	0.542000													32	419					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559842	33559842	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:33559842T>C	ENST00000228567.3	-	3	1255	c.959A>G	c.(958-960)gAt>gGt	p.D320G	SYT10_ENST00000535526.1_Missense_Mutation_p.D139G	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	320	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGTCAAAATCATACACACT	0.358000													6	61					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069802	114069802	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:114069802A>C	ENST00000462705.1	-	11	1725	c.904T>G	c.(904-906)Ttc>Gtc	p.F302V	ZBTB20_ENST00000471418.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.F375V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.F302V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.F302V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.F302V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCCGAGTCGAAGCTTTCACCT	0.642000													9	51					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237422	30237422	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:30237422G>T	ENST00000378988.4	+	2	826	c.725G>T	c.(724-726)gGg>gTg	p.G242V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	242	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCAGTCTTTGGGGAACCCTGG	0.488000													8	21					0.27861	0.279	1	1	0
GK2	2712	broad.mit.edu	37	4	80329050	80329050	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:80329050T>C	ENST00000358842.3	-	1	322	c.305A>G	c.(304-306)aAg>aGg	p.K102R		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	102					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCTGTTAACTTGTCCCAGAT	0.413000													43	124					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179504834	179504834	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:179504834G>A	ENST00000589042.1	-	222	40951	c.40727C>T	c.(40726-40728)cCt>cTt	p.P13576L	TTN_ENST00000359218.5_Missense_Mutation_p.P4636L|TTN_ENST00000342992.6_Missense_Mutation_p.P11008L|TTN_ENST00000342175.6_Missense_Mutation_p.P4703L|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11935L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4511L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11935	Ig-like 92.						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)			CTTGATTTCAGGCACTGAAAT	0.398000													31	112					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413090	124413090	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:124413090C>A	ENST00000306842.2	-	1	485	c.461G>T	c.(460-462)gGg>gTg	p.G154V		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCATGGCCCCAGCAAACCC	0.517000													90	51					2.38877e-28	3.37349e-28	1	1	0
RPL10L	140801	broad.mit.edu	37	14	47120371	47120371	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:47120371A>G	ENST00000298283.3	-	1	657	c.569T>C	c.(568-570)cTc>cCc	p.L190P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	190					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCAGGGATGAGGCACTTCTT	0.498000													10	69					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134212	22134212	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:22134212G>T	ENST00000408935.1	+	1	916	c.916G>T	c.(916-918)Gtt>Ttt	p.V306F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCAGAGACAAGTTTTTTTCAC	0.408000													12	49					2.80697e-09	3.27328e-09	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814159	137814159	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:137814159C>G	ENST00000409968.1	+	3	487	c.309C>G	c.(307-309)ctC>ctG	p.L103L	THSD7B_ENST00000413152.2_Silent_p.L72L|THSD7B_ENST00000272643.3_Silent_p.L103L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGTGACCTCTTTCAGTGGG	0.532000													16	32					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132781962	132781962	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:132781962T>A	ENST00000367941.2	-	10	834	c.721A>T	c.(721-723)Atc>Ttc	p.I241F		NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	241					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATAAGAATGATGATGCACAGG	0.393000													45	34					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34954657	34954657	+	Splice_Site	SNP	G	G	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:34954657G>C	ENST00000382021.2	+	13	1796		c.e13-1		DNAJC21_ENST00000303525.7_Splice_Site|DNAJC21_ENST00000342382.4_Splice_Site	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GCCCTTCTCAGAGTGTTCTTA	0.343000													13	148					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219444	155219444	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:155219444C>A	ENST00000357232.3	-	18	4656	c.4657G>T	c.(4657-4659)Gtg>Ttg	p.V1553L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1553	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTCTGGCCACAGCACTAAAT	0.443000													32	95					1.56442e-22	2.12951e-22	1	1	0
FUT1	2523	broad.mit.edu	37	19	49254139	49254139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:49254139C>A	ENST00000310160.3	-	4	1374	c.400G>T	c.(400-402)Gaa>Taa	p.E134*		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	134					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGTCCACTTCTGGGGCCAGC	0.657000													36	111					3.21987e-24	4.42501e-24	1	1	0
JAK3	3718	broad.mit.edu	37	19	17943723	17943723	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:17943723G>A	ENST00000458235.1	-	18	2465	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L	JAK3_ENST00000527670.1_Missense_Mutation_p.S789L|JAK3_ENST00000534444.1_Missense_Mutation_p.S789L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	789					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTGGGGTCTGAGAGGAGCTC	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	29					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294353	28294353	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:28294353C>G	ENST00000414429.1	-	8	1714	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E271Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E112Q|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E271Q|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E271Q					zinc finger and SCAN domain containing 31																		TTCCCACATTCTTCACATTCA	0.498000													28	168					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345665	235345665	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:235345665T>G	ENST00000264183.3	-	20	3066	c.2569A>C	c.(2569-2571)Agt>Cgt	p.S857R	ARID4B_ENST00000349213.3_Missense_Mutation_p.S771R|ARID4B_ENST00000366603.2_Missense_Mutation_p.S857R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGTTGCTACTGTTTTCCATG	0.368000													63	71					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656625	19656625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:19656625G>T	ENST00000586018.1	+	8	3391	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	CILP2_ENST00000291495.4_Nonsense_Mutation_p.E1091*			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1091						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						CTTCTCCAGAGAGATGAAGGC	0.632000													11	21					1.5842e-08	1.82361e-08	1	1	0
TGM4	7047	broad.mit.edu	37	3	44929214	44929214	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:44929214T>A	ENST00000296125.4	+	3	295	c.227T>A	c.(226-228)gTg>gAg	p.V76E		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	76					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CACACCCTGGTGGTGCTCGAC	0.597000													16	21					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119382705	119382705	+	Silent	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:119382705C>G	ENST00000313400.4	-	18	3190	c.3090G>C	c.(3088-3090)ctG>ctC	p.L1030L	ASTN2_ENST00000358637.4_Silent_p.L82L|ASTN2_ENST00000373996.3_Silent_p.L1026L|ASTN2_ENST00000288520.5_Silent_p.L131L|ASTN2_ENST00000361477.3_Silent_p.L82L|ASTN2_ENST00000361209.2_Silent_p.L979L|ASTN2_ENST00000341734.4_Silent_p.L82L			O75129	ASTN2_HUMAN	astrotactin 2	1030						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						AGGAACTCATCAGTGCACTCT	0.507000													31	206					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959923	13959923	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr8:13959923A>T	ENST00000382080.1	-	7	1421	c.706T>A	c.(706-708)Tgc>Agc	p.C236S	SGCZ_ENST00000421524.2_Missense_Mutation_p.C189S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	223					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCTTCCTGCAGGTGGCCTTG	0.522000													12	43					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605965	5605965	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrY:5605965G>T	ENST00000215473.6	+	6	4005	c.4005G>T	c.(4003-4005)atG>atT	p.M1335I				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1335					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCCCATTATGGAAACACATC	0.368000													35	40					5.8336e-16	7.37961e-16	1	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744268	31744268	+	Silent	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:31744268G>A	ENST00000399889.2	-	1	289	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	88	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AAGGACTGCAGAGCAAGGAGG	0.612000													25	85					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256560	9256560	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr18:9256560A>G	ENST00000383440.2	+	8	3483	c.3226A>G	c.(3226-3228)Aag>Gag	p.K1076E	ANKRD12_ENST00000262126.3_Missense_Mutation_p.K1099E|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K1076E	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1099						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAAAAAACATAAGGAAAAAAT	0.308000													26	101					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4311958	4311958	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:4311958C>T	ENST00000221856.6	+	7	757	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R204W	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	204	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTACCGGCGGACCAACTT	0.627000													10	15					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060894	38060894	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:38060894C>T	ENST00000250448.2	-	2	1156	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	FOXA1_ENST00000540786.1_Silent_p.G332G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	365					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGCCAGCGCCCCGGGCCCGG	0.692000													4	5					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14499618	14499618	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:14499618G>A	ENST00000242786.5	+	3	258	c.178G>A	c.(178-180)Gag>Aag	p.E60K	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.E60K|CD97_ENST00000357355.3_Missense_Mutation_p.E60K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	60	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACCCCGACGGAGACTTGTGA	0.602000													73	283					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412087	77412087	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:77412087C>T	ENST00000308488.6	-	6	2489	c.2187G>A	c.(2185-2187)caG>caA	p.Q729Q	RSF1_ENST00000480887.1_Silent_p.Q477Q|RSF1_ENST00000360355.2_Silent_p.Q698Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	729					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGCCCTCTTTCTGCCTTTCAG	0.398000													60	87					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285904	130285904	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:130285904C>A	ENST00000358511.6	+	4	1672	c.1641C>A	c.(1639-1641)ggC>ggA	p.G547G	COL6A6_ENST00000453409.2_Silent_p.G547G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	547	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACAAATGGCATGTCCAAGG	0.483000													43	60					3.43241e-23	4.69906e-23	1	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113661633	113661633	+	RNA	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr11:113661633C>T	ENST00000393544.2	+	0	1681																											GACTCCACTGCTTACGTTGCC	0.507000													29	16					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102367	168102367	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:168102367C>A	ENST00000409195.1	+	9	4554	c.4465C>A	c.(4465-4467)Cag>Aag	p.Q1489K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1489K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1267K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1314					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						TGATGTTAAGCAGGCTGTGTG	0.388000													25	75					3.28513e-13	4.02766e-13	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263133	248263133	+	Silent	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:248263133C>A	ENST00000366478.2	+	3	793	c.456C>A	c.(454-456)tcC>tcA	p.S152S	OR2L13_ENST00000358120.2_Silent_p.S152S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	152					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)			CACTGGGGTCCATCAACTCCT	0.483000													69	293					4.98926e-31	7.07388e-31	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555596	155555596	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:155555596G>T	ENST00000295101.2	+	1	786	c.309G>T	c.(307-309)tgG>tgT	p.W103C	KCNJ3_ENST00000544049.1_Missense_Mutation_p.W103C	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	103					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCATGTGGTGGGTGATCGCCT	0.557000													20	55					2.27731e-05	2.4373e-05	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177746	223177746	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:223177746A>C	ENST00000284476.6	+	8	3171	c.3007A>C	c.(3007-3009)Act>Cct	p.T1003P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1003					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTGCTGACAACTTGGAACAT	0.483000													44	88					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805493	24805493	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr14:24805493G>A	ENST00000216274.5	-	10	1663	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	482					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	p.S482L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCCTTGCCCGAAGGTGCCAA	0.542000													30	77					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49484845	49484845	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:49484845G>A	ENST00000323798.3	-	8	1307	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	GYS1_ENST00000541188.1_Missense_Mutation_p.R291W|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Missense_Mutation_p.R4W|GYS1_ENST00000263276.6_Missense_Mutation_p.R307W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	371					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTGTTGGTCCGCGCTGGCATG	0.602000													13	47					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627386	148627386	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:148627386G>A	ENST00000506113.1	+	17	2075	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	ABLIM3_ENST00000356541.3_Missense_Mutation_p.M420I|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.M436I|ABLIM3_ENST00000508983.1_Missense_Mutation_p.M498I|ABLIM3_ENST00000309868.7_Missense_Mutation_p.M531I|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.M17I|ABLIM3_ENST00000504238.1_Missense_Mutation_p.M420I			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	531					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGAAATGAAGGCCCGGT	0.557000													9	53					0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58164900	58164900	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:58164900C>A	ENST00000324871.7	-	2	960	c.251G>T	c.(250-252)gGc>gTc	p.G84V	METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Missense_Mutation_p.G84V	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	84						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			ATAGCCACAGCCTATGTCTGC	0.517000													15	31					8.60227e-14	1.06011e-13	1	1	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776296	27776296	+	Silent	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:27776296C>T	ENST00000358739.3	+	1	398	c.309C>T	c.(307-309)atC>atT	p.I103I		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						AAGTCACCATCGCACAGGGTG	0.592000													14	90					0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43638098	43638098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr15:43638098G>T	ENST00000422466.2	+	9	1046	c.472G>T	c.(472-474)Gag>Tag	p.E158*	ADAL_ENST00000389651.4_Nonsense_Mutation_p.E158*|ADAL_ENST00000562188.1_Nonsense_Mutation_p.E158*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.E158*			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	158					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		AGTAGCCAAGGAGACTGTAAA	0.413000													34	51					1.836e-18	2.40325e-18	1	1	0
CILP2	148113	broad.mit.edu	37	19	19654530	19654530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:19654530C>G	ENST00000586018.1	+	8	1296	c.1194C>G	c.(1192-1194)taC>taG	p.Y398*	CILP2_ENST00000291495.4_Nonsense_Mutation_p.Y392*			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	392						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						CCCGAGAGTACCTGATCAAGC	0.662000													9	549					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133226011	133226011	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:133226011C>T	ENST00000320574.5	-	31	3929	c.3886G>A	c.(3886-3888)Gag>Aag	p.E1296K	POLE_ENST00000535270.1_Missense_Mutation_p.E1269K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1296					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGCCGACTCCAGACGCTGC	0.667000								DNA polymerases (catalytic subunits)					23	69					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													5	7	---	---	---	---					
DYNC1I2	1781	broad.mit.edu	37	2	172584813	172584813	+	Splice_Site	DEL	A	A	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:172584813delA	ENST00000534253.2	+	13	1311		c.e13-1		DYNC1I2_ENST00000263811.4_Splice_Site|DYNC1I2_ENST00000508530.1_Splice_Site|DYNC1I2_ENST00000409453.1_Splice_Site|DYNC1I2_ENST00000358002.6_Splice_Site|DYNC1I2_ENST00000409317.1_Splice_Site|DYNC1I2_ENST00000409773.1_Splice_Site|DYNC1I2_ENST00000409197.1_Splice_Site|DYNC1I2_ENST00000340296.4_Splice_Site|DYNC1I2_ENST00000410079.3_Splice_Site|DYNC1I2_ENST00000397119.3_Splice_Site			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2						G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TAATATCTCTAGCACCCTGTA	0.313													4	7	---	---	---	---					
ITGA4	3676	broad.mit.edu	37	2	182347354	182347355	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr2:182347354_182347355insT	ENST00000397033.2	+	9	1447_1448	c.1017_1018insT	c.(1015-1020)gtttgtfs	p.C340fs		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	340					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGGAAGAGTGTTTGTGTACAT	0.475													45	140	---	---	---	---					
CHST2	9435	broad.mit.edu	37	3	142840098	142840098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr3:142840098delC	ENST00000309575.3	+	2	1824	c.440delC	c.(439-441)ggfs	p.A148fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	148					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCGGGGGTTGCGGCCCCTCCA	0.721													8	9	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													2	4	---	---	---	---					
MROH2B	133558	broad.mit.edu	37	5	41058230	41058230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr5:41058230delG	ENST00000399564.4	-	7	1141	c.691delC	c.(691-693)tgfs	p.L231fs	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L231M(1)									ACCTGGCCCAGGGCGTATCCA	0.522													8	77	---	---	---	---					
PRRT1	80863	broad.mit.edu	37	6	32118410	32118410	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:32118410delG	ENST00000211413.5	-	2	417	c.293delC	c.(292-294)cafs	p.P99fs	PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	99					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCAGCCGGGTGGGGGTGCCCC	0.776													2	4	---	---	---	---					
GPR111	222611	broad.mit.edu	37	6	47650193	47650204	+	In_Frame_Del	DEL	CCATTGGCAATT	CCATTGGCAATT	-	rs112845439		TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr6:47650193_47650204delCCATTGGCAATT	ENST00000398742.2	+	5	1743_1754	c.1694_1705delCCATTGGCAATT	c.(1693-1707)gcc>g	p.AIGNS565del	GPR111_ENST00000507065.1_In_Frame_Del_p.AIGNS565del|GPR111_ENST00000296862.1_In_Frame_Del_p.AIGNS633del			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGCGAGCTGCCATTGGCAATTCCATGTTCCA	0.524													15	55	---	---	---	---					
PNPLA8	50640	broad.mit.edu	37	7	108154677	108154679	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr7:108154677_108154679delTTC	ENST00000426128.2	-	3	1240_1242	c.1115_1117delGAA	c.(1114-1119)aca>a	p.RT372del	PNPLA8_ENST00000453144.1_In_Frame_Del_p.RT272del|PNPLA8_ENST00000422087.1_In_Frame_Del_p.RT372del|PNPLA8_ENST00000388728.5_In_Frame_Del_p.RT372del|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_In_Frame_Del_p.RT372del|PNPLA8_ENST00000436062.1_In_Frame_Del_p.RT372del	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	372					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGGTCAGTTGTTCTTCTTAATGC	0.369													42	530	---	---	---	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaa>ga	p.EE620del	TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	620	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													7	60	---	---	---	---					
USP6NL	9712	broad.mit.edu	37	10	11505333	11505334	+	Frame_Shift_Ins	INS	-	-	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr10:11505333_11505334insC	ENST00000379237.1	-	15	1987_1988	c.1593_1594insG	c.(1591-1596)cgcaaafs	p.K532fs	USP6NL_ENST00000277575.5_Frame_Shift_Ins_p.K549fs	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	532						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCATCTTTGGCCGCACGTTTG	0.644													27	274	---	---	---	---					
ATF7IP	55729	broad.mit.edu	37	12	14577503	14577504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr12:14577503_14577504insC	ENST00000544627.1	+	2	998_999	c.678_679insC	c.(676-681)gaccatfs	p.H227fs	ATF7IP_ENST00000543189.1_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000536444.1_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Frame_Shift_Ins_p.H219fs|ATF7IP_ENST00000540793.1_Frame_Shift_Ins_p.H219fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	219					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCCCTGTTGAACCCATTTCTGG	0.530													82	83	---	---	---	---					
KRT37	8688	broad.mit.edu	37	17	39578596	39578596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr17:39578596delC	ENST00000225550.3	-	4	822	c.823delG	c.(823-825)agfs	p.E275fs	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	275	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCCGCATCTCCCCCAACACC	0.562													109	124	---	---	---	---					
SIX5	147912	broad.mit.edu	37	19	46271640	46271641	+	Frame_Shift_Ins	INS	-	-	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:46271640_46271641insG	ENST00000317578.6	-	1	843_844	c.462_463insC	c.(460-465)gccccafs	p.AP154fs	AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	154						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCGTGGTGGGCGGCGGGGAAGG	0.733													7	13	---	---	---	---					
LIM2	3982	broad.mit.edu	37	19	51885780	51885780	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr19:51885780delG	ENST00000221973.3	-	3	385	c.343delC	c.(343-345)tafs	p.L115fs	LIM2_ENST00000596399.1_Frame_Shift_Del_p.L73fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	73					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ATGGCGCATAGGGCAGACAGG	0.577													28	75	---	---	---	---					
ADAMTS5	11096	broad.mit.edu	37	21	28337882	28337882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:28337882delC	ENST00000284987.5	-	1	950	c.829delG	c.(829-831)cgfs	p.A277fs		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	277	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCATGGACGCGTCAGCCACC	0.682													12	40	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37571434	37571434	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:37571434delC	ENST00000399151.3	+	3	290	c.205delC	c.(205-207)agfs	p.Q69fs	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	69					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGATTAGCTCAGTGTTTGCA	0.473													25	101	---	---	---	---					
RRP1	8568	broad.mit.edu	37	21	45215133	45215134	+	Splice_Site	INS	-	-	G			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chr21:45215133_45215134insG	ENST00000497547.1	+	5	539		c.e5+2			NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1						rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGAAGAAAGGTGGGTGCGCGGC	0.540													42	120	---	---	---	---					
BCAP31	10134	broad.mit.edu	37	X	152968459	152968459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8399-01A-21D-2323-08	TCGA-62-8399-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd097196-01a6-43dc-976f-4f9c5221f384	310ce1a5-5291-425e-8f7e-9772a7eb9d4a	g.chrX:152968459delC	ENST00000458587.2	-	6	1162	c.733delG	c.(733-735)agfs	p.E247fs	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000345046.6_Frame_Shift_Del_p.E180fs|BCAP31_ENST00000441714.1_Frame_Shift_Del_p.E180fs	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	180					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCTTCCTCCAACTTCACC	0.582													88	303	---	---	---	---					
