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
PLEKHG4	25894	broad.mit.edu	37	16	67314151	67314151	+	Silent	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr16:67314151G>A	ENST00000360461.5	+	1	2739	c.204G>A	c.(202-204)agG>agA	p.R68R	PLEKHG4_ENST00000450733.1_Silent_p.R68R|PLEKHG4_ENST00000427155.2_Silent_p.R68R|PLEKHG4_ENST00000379344.3_Silent_p.R68R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	68					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCTTGTCCAGGAAATTCCAGT	0.617000													14	41					0	0	0.020292	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249335	90249335	+	RNA	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:90249335C>A	ENST00000468879.1	+	0	472																											CTCTCACCATCAGCAGCCTGC	0.478000													16	240					7.41877e-09	1.05982e-08	0.012319	1	0
BATF	10538	broad.mit.edu	37	14	76012936	76012936	+	Silent	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr14:76012936G>T	ENST00000286639.6	+	3	558	c.300G>T	c.(298-300)acG>acT	p.T100T	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	100						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CCGCCAGCACGCCCTCGCCCC	0.642000													8	16					0.00621372	0.00696865	0.006214	1	0
BPIFA3	128861	broad.mit.edu	37	20	31811765	31811765	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr20:31811765C>A	ENST00000375454.3	+	2	486	c.276C>A	c.(274-276)agC>agA	p.S92R	BPIFA3_ENST00000375452.3_Missense_Mutation_p.S92R|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	92						extracellular region	lipid binding										AGCAAGAGAGCAGGTGAGACC	0.582000													14	39					0.000308642	0.000366703	0.024245	1	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													3	24					0	0	0.009096	0	0
GKN1	56287	broad.mit.edu	37	2	69207922	69207922	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:69207922C>T	ENST00000377938.2	+	6	630	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	189					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GGATTGTGGACATTTCCTTCT	0.383000													11	32					0	0	0.010729	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249359	90249359	+	RNA	SNP	T	T	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:90249359T>C	ENST00000468879.1	+	0	496																											CTGAAGATTTTGCAACTTATT	0.507000													31	238					0	0	0.023175	0	0
TTC7B	145567	broad.mit.edu	37	14	91044541	91044541	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr14:91044541G>T	ENST00000357056.2	-	20	2391	c.2270C>A	c.(2269-2271)gCt>gAt	p.A757D	TTC7B_ENST00000328459.6_Missense_Mutation_p.A740D|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCGGAGCTCAGCAATCTGGCC	0.602000													9	17					2.17888e-05	2.64106e-05	0.006214	1	0
PRSS35	167681	broad.mit.edu	37	6	84233295	84233295	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr6:84233295C>T	ENST00000536636.1	+	3	480	c.135C>T	c.(133-135)ctC>ctT	p.L45L	PRSS35_ENST00000369700.3_Silent_p.L45L	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	45					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CTTTCCATCTCACCAGCCCCG	0.488000													27	74					0	0	0.008361	0	0
VCAN	1462	broad.mit.edu	37	5	82818114	82818114	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:82818114G>T	ENST00000265077.3	+	7	4554	c.3989G>T	c.(3988-3990)aGa>aTa	p.R1330I	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.R1282I|VCAN_ENST00000342785.4_Missense_Mutation_p.R1330I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1330	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGAGGTCAGAGAAAATAAG	0.403000													20	52					1.01871e-10	1.5092e-10	0.008871	1	0
PACS2	23241	broad.mit.edu	37	14	105833710	105833710	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr14:105833710C>T	ENST00000447393.1	+	5	759	c.584C>T	c.(583-585)aCg>aTg	p.T195M	PACS2_ENST00000430725.2_Missense_Mutation_p.T128M|PACS2_ENST00000325438.8_Missense_Mutation_p.T195M|PACS2_ENST00000458164.2_Missense_Mutation_p.T195M|PACS2_ENST00000547217.1_Missense_Mutation_p.T165M	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	195					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCAAGTCCACGGGTGAGTGT	0.667000													25	52					0	0	0.006320	0	0
TCOF1	6949	broad.mit.edu	37	5	149771567	149771567	+	Silent	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:149771567C>A	ENST00000451292.1	+	22	3564	c.3456C>A	c.(3454-3456)acC>acA	p.T1152T	TCOF1_ENST00000323668.7_Silent_p.T1038T|TCOF1_ENST00000439160.2_Silent_p.T1077T|TCOF1_ENST00000377797.3_Silent_p.T1115T|TCOF1_ENST00000504761.2_Silent_p.T1115T|TCOF1_ENST00000513346.1_Silent_p.T1114T|TCOF1_ENST00000445265.2_Silent_p.T1038T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1115					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAGCACCTCCGTCCAGG	0.527000													10	26					0.000442599	0.000520705	0.006214	1	0
LRGUK	136332	broad.mit.edu	37	7	133876486	133876486	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:133876486G>A	ENST00000285928.2	+	12	1483	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	472	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGACGTTTTTGATGAAATGGT	0.343000													15	41					0	0	0.024245	0	0
ZBTB45	84878	broad.mit.edu	37	19	59025507	59025507	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr19:59025507C>T	ENST00000594051.1	-	3	1930	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E484K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E484K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGCGCGCGCTCGGGCCGGTGA	0.736000													6	11					0	0	0.001984	0	0
ABCB1	5243	broad.mit.edu	37	7	87165842	87165842	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:87165842C>A	ENST00000265724.3	-	21	2830	c.2413G>T	c.(2413-2415)Gat>Tat	p.D805Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D741Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	805	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.D805N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTAGGGTCATCAAACCAACTC	0.458000													8	34					3.09899e-07	4.08657e-07	0.004482	1	0
SLC8A1	6546	broad.mit.edu	37	2	40402404	40402404	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:40402404G>T	ENST00000542756.1	-	4	1956	c.1933C>A	c.(1933-1935)Ctt>Att	p.L645I	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L645I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L645I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L645I|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000408028.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	645					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTACCAAGCTCATTCAAT	0.353000													6	17					0.00198382	0.00224583	0.001984	1	0
ERC2	26059	broad.mit.edu	37	3	56468890	56468890	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr3:56468890A>G	ENST00000288221.6	-	2	401	c.146T>C	c.(145-147)aTc>aCc	p.I49T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	49						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAGGGACTGGATATTCTCCAT	0.527000													26	22					0	0	0.006320	0	0
KCNG2	26251	broad.mit.edu	37	18	77624205	77624205	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr18:77624205G>A	ENST00000316249.3	+	1	538	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	180					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CAAGCTCTTCGCCTGCGTGTC	0.771000													9	6					0	0	0.006214	0	0
SMYD2	56950	broad.mit.edu	37	1	214491427	214491427	+	Silent	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:214491427C>A	ENST00000366957.5	+	4	376	c.354C>A	c.(352-354)atC>atA	p.I118I	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Silent_p.I118I	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	118					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCTAGAAAATCCACCCAGAGA	0.398000													19	96					4.63292e-17	7.72154e-17	0.008871	1	0
PTPRT	11122	broad.mit.edu	37	20	41514514	41514514	+	Silent	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr20:41514514G>T	ENST00000373198.4	-	2	382	c.147C>A	c.(145-147)acC>acA	p.T49T	PTPRT_ENST00000373193.3_Silent_p.T49T|PTPRT_ENST00000373201.1_Silent_p.T49T|PTPRT_ENST00000373187.1_Silent_p.T49T|PTPRT_ENST00000373190.1_Silent_p.T49T|PTPRT_ENST00000485499.1_5'UTR|PTPRT_ENST00000373184.1_Silent_p.T49T|PTPRT_ENST00000356100.2_Silent_p.T49T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.T49T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAACCCATTGGTCCCTAGAG	0.488000													21	39					1.55795e-14	2.49271e-14	0.012319	1	0
BRWD3	254065	broad.mit.edu	37	X	79973160	79973160	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:79973160C>A	ENST00000373275.4	-	19	2359	c.2143G>T	c.(2143-2145)Gct>Tct	p.A715S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	715										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCGAGGAGCATTGTTATGC	0.438000													31	74					1.75199e-13	2.76629e-13	0.007291	1	0
USP54	159195	broad.mit.edu	37	10	75258708	75258708	+	Silent	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr10:75258708G>A	ENST00000339859.4	-	23	4834	c.4734C>T	c.(4732-4734)ggC>ggT	p.G1578G	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000422491.2_Silent_p.G713G|RP11-137L10.6_ENST00000596320.1_RNA|USP54_ENST00000428547.1_Silent_p.G1428G|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000408019.1_Silent_p.G1578G|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000394811.2_Silent_p.G619G			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1578					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GAACCTGAAGGCCCTTGCTTC	0.512000													40	89					0	0	0.027894	0	0
MAN2A1	4124	broad.mit.edu	37	5	109026216	109026216	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:109026216A>G	ENST00000261483.4	+	1	1150	c.98A>G	c.(97-99)tAc>tGc	p.Y33C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	33					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)		CACTTAGACTACCCCAGGAAC	0.632000													5	14					0	0	0.014758	0	0
EXOC1	55763	broad.mit.edu	37	4	56765938	56765938	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:56765938G>A	ENST00000381295.2	+	17	2573	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	EXOC1_ENST00000346134.7_Missense_Mutation_p.R742Q|EXOC1_ENST00000349598.6_Missense_Mutation_p.R727Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	742					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACTCTTTCTCGATTGAAAATC	0.368000													23	64					0	0	0.016522	0	0
TRIM71	131405	broad.mit.edu	37	3	32932318	32932318	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr3:32932318G>C	ENST00000383763.5	+	4	1685	c.1622G>C	c.(1621-1623)aGt>aCt	p.S541T		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGAGGTGAGTGATCAGCAG	0.572000													25	24					0	0	0.021523	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800685	185800685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:185800685G>T	ENST00000302277.6	+	4	1156	c.562G>T	c.(562-564)Gaa>Taa	p.E188*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	188						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAGATCCAGAAAGTGCAAA	0.358000													15	30					2.61681e-11	4.02587e-11	0.020292	1	0
AADACL3	126767	broad.mit.edu	37	1	12785941	12785941	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:12785941T>G	ENST00000332530.3	+	3	1047	c.821T>G	c.(820-822)gTt>gGt	p.V274G	AADACL3_ENST00000359318.5_Missense_Mutation_p.V344G	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	344							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCATTAGTTCAATTTGTA	0.498000													10	36					0	0	0.010729	0	0
XIRP2	129446	broad.mit.edu	37	2	168114500	168114500	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:168114500C>A	ENST00000409728.1	+	11	1632	c.1543C>A	c.(1543-1545)Caa>Aaa	p.Q515K	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q482K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.Q260K|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q515K|XIRP2_ENST00000409756.2_Missense_Mutation_p.Q482K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						CTGCAAAAACCAAAGCAGATC	0.333000													22	41					1.96895e-08	2.71579e-08	0.016522	1	0
ELP2	55250	broad.mit.edu	37	18	33738800	33738800	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr18:33738800A>T	ENST00000358232.6	+	14	1530	c.1467A>T	c.(1465-1467)caA>caT	p.Q489H	ELP2_ENST00000350494.6_Missense_Mutation_p.Q484H|ELP2_ENST00000423854.2_Missense_Mutation_p.Q419H|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.Q463H|ELP2_ENST00000442325.2_Missense_Mutation_p.Q554H|ELP2_ENST00000542824.1_Missense_Mutation_p.Q419H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	489					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TATTCTAGCAAGATAGTGATC	0.313000													12	15					0	0	0.013537	0	0
TAZ	6901	broad.mit.edu	37	X	153648506	153648506	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:153648506G>T	ENST00000369776.4	+	5	597	c.512G>T	c.(511-513)tGc>tTc	p.C171F	TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000475699.1_Intron|TAZ_ENST00000351413.4_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCCAGGCTGCCCTGCTCCA	0.642000													64	254					1.1362e-29	2.06581e-29	0.014410	1	0
DBX2	440097	broad.mit.edu	37	12	45417649	45417649	+	Silent	SNP	T	T	G	rs139089550		TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:45417649T>G	ENST00000332700.6	-	3	699	c.528A>C	c.(526-528)acA>acC	p.T176T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TAGAGTCCTGTGTCAGGAGAG	0.433000													20	36					0	0	0.008871	0	0
USP32	84669	broad.mit.edu	37	17	58260712	58260712	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr17:58260712C>T	ENST00000300896.4	-	31	4131	c.3937G>A	c.(3937-3939)Gta>Ata	p.V1313I	USP32_ENST00000592339.1_Missense_Mutation_p.V983I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1313					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTCTTGGTACCAAAAAAGCA	0.458000													19	61					0	0	0.006122	0	0
SGCD	6444	broad.mit.edu	37	5	156184676	156184676	+	Silent	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:156184676C>A	ENST00000435422.3	+	7	1144	c.657C>A	c.(655-657)acC>acA	p.T219T	SGCD_ENST00000447401.1_Silent_p.T220T|SGCD_ENST00000337851.4_Silent_p.T220T|SGCD_ENST00000517913.1_Silent_p.T220T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	219					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAAGCCACCTGCAGGACAG	0.517000													4	4					0.0215528	0.0239475	0.021553	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900075	151900075	+	Silent	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:151900075G>T	ENST00000393900.3	-	3	1079	c.726C>A	c.(724-726)ccC>ccA	p.P242P	MAGEA12_ENST00000357916.4_Silent_p.P242P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.P242P	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	242	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTCCTGGGATGCGCAA	0.572000													52	200					1.32667e-27	2.37613e-27	0.014410	1	0
RTTN	25914	broad.mit.edu	37	18	67864903	67864903	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr18:67864903T>C	ENST00000255674.6	-	6	936	c.650A>G	c.(649-651)gAt>gGt	p.D217G	RTTN_ENST00000454359.1_Missense_Mutation_p.D217G|RTTN_ENST00000437017.1_Missense_Mutation_p.D217G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	217							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGCAGGAAAATCTTGCATGAT	0.333000													10	27					0	0	0.010729	0	0
CHST7	56548	broad.mit.edu	37	X	46433887	46433887	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:46433887C>T	ENST00000276055.3	+	1	669	c.521C>T	c.(520-522)cCg>cTg	p.P174L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	174					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TAcgcgccgccgggggacccc	0.701000													5	29					0	0	0.014758	0	0
FAT1	2195	broad.mit.edu	37	4	187630666	187630666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:187630666C>T	ENST00000441802.2	-	2	525	c.316G>A	c.(316-318)Gct>Act	p.A106T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	106	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAAGAATAGCTGTATTTCCT	0.398000										HNSCC(5;0.00058)			34	26					0	0	0.012213	0	0
KIF25	3834	broad.mit.edu	37	6	168434587	168434587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr6:168434587G>A	ENST00000443060.2	+	5	584	c.193G>A	c.(193-195)Gga>Aga	p.G65R	KIF25_ENST00000354419.2_Missense_Mutation_p.G65R|KIF25_ENST00000351261.3_Missense_Mutation_p.G65R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	65	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TATGGCGTATGGACAGACGGG	0.493000													12	39					0	0	0.013537	0	0
OR5M10	390167	broad.mit.edu	37	11	56344430	56344430	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:56344430G>T	ENST00000526812.2	-	1	833	c.768C>A	c.(766-768)ttC>ttA	p.F256L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CGTACATGCAGAAGAGGGTTC	0.448000													46	102					7.89702e-26	1.3734e-25	0.014410	1	0
ERAS	3266	broad.mit.edu	37	X	48687714	48687714	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:48687714C>G	ENST00000338270.1	+	1	432	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	61					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GACCATCCAGCTGAACCACCA	0.617000													6	29					0	0	0.003080	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													3	3					0	0	0.004672	0	0
NANOGP1	404635	broad.mit.edu	37	12	8051494	8051494	+	RNA	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:8051494G>A	ENST00000607111.1	+	0	714																				kidney(1)|lung(4)|prostate(1)	6						ACCTGAAGACGTGTGAAGATG	0.418000													36	103					0	0	0.021022	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299664	125299664	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:125299664T>A	ENST00000538699.1	-	2	324	c.244A>T	c.(244-246)Agg>Tgg	p.R82W	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R82W	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	82										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						TCGGGCAGCCTCTGGACGGCG	0.701000													24	47					0	0	0.018920	0	0
KCNH7	90134	broad.mit.edu	37	2	163374588	163374588	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:163374588C>A	ENST00000332142.5	-	4	643	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	KCNH7_ENST00000328032.4_Missense_Mutation_p.V182L|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	182					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGACCACCACATCGGGGTCT	0.433000													26	40					1.1804e-14	1.91416e-14	0.021523	1	0
UNC13C	440279	broad.mit.edu	37	15	54305273	54305273	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr15:54305273C>A	ENST00000545554.1	+	1	173	c.173C>A	c.(172-174)aCt>aAt	p.T58N	UNC13C_ENST00000537900.1_Missense_Mutation_p.T58N|UNC13C_ENST00000260323.11_Missense_Mutation_p.T58N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	58					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTCTTACACTTTTAAAAGC	0.408000													7	39					0.000157383	0.00018886	0.003080	1	0
HYDIN	54768	broad.mit.edu	37	16	71004443	71004443	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr16:71004443G>T	ENST00000393567.2	-	36	5749	c.5599C>A	c.(5599-5601)Cag>Aag	p.Q1867K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1867										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)				ATGAGATACTGCTGATCAAAT	0.438000													8	15					7.48243e-07	9.65475e-07	0.006214	1	0
IFNLR1	163702	broad.mit.edu	37	1	24484264	24484264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:24484264G>A	ENST00000327535.1	-	7	931	c.919C>T	c.(919-921)Cga>Tga	p.R307*	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GCCCTGACTCGAGGCGTCGGC	0.577000													71	130					0	0	0.014410	0	0
LAYN	143903	broad.mit.edu	37	11	111414797	111414797	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:111414797C>A	ENST00000375614.2	+	2	571	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	LAYN_ENST00000533265.1_Missense_Mutation_p.Q79K|LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.Q87K|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.Q87K	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	87	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		TGAAGATGAACAGAAACTGAT	0.468000													7	21					0.00198382	0.00224583	0.001984	1	0
PROM1	8842	broad.mit.edu	37	4	15993957	15993957	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:15993957G>T	ENST00000505450.1	-	16	2410	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	PROM1_ENST00000508167.1_Missense_Mutation_p.L600M|PROM1_ENST00000510224.1_Missense_Mutation_p.L609M|PROM1_ENST00000540805.1_Missense_Mutation_p.L609M|PROM1_ENST00000447510.2_Missense_Mutation_p.L609M|PROM1_ENST00000543373.1_Missense_Mutation_p.L600M|PROM1_ENST00000539194.1_Missense_Mutation_p.L609M	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	609					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						GCACCCAACAGAAAGATATTA	0.408000													28	56					1.17739e-12	1.8349e-12	0.027356	1	0
ABCC9	10060	broad.mit.edu	37	12	22068813	22068813	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:22068813A>G	ENST00000261200.4	-	5	604	c.605T>C	c.(604-606)gTa>gCa	p.V202A	ABCC9_ENST00000345162.2_Missense_Mutation_p.V202A|ABCC9_ENST00000261201.4_Missense_Mutation_p.V202A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	202					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGAGGCTTTACTTTCTGAGG	0.338000													11	31					0	0	0.010729	0	0
POSTN	10631	broad.mit.edu	37	13	38162072	38162072	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr13:38162072A>T	ENST00000379747.4	-	5	610	c.493T>A	c.(493-495)Tta>Ata	p.L165I	POSTN_ENST00000379743.4_Missense_Mutation_p.L165I|POSTN_ENST00000541179.1_Missense_Mutation_p.L165I|POSTN_ENST00000379749.4_Missense_Mutation_p.L165I|POSTN_ENST00000541481.1_Missense_Mutation_p.L165I|POSTN_ENST00000379742.4_Missense_Mutation_p.L165I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	165	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGACTATGTAAAGCATTCAGT	0.323000													20	42					0	0	0.008871	0	0
HECW1	23072	broad.mit.edu	37	7	43547627	43547627	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:43547627C>A	ENST00000395891.2	+	23	4368	c.3763C>A	c.(3763-3765)Cgc>Agc	p.R1255S	HECW1_ENST00000453890.1_Missense_Mutation_p.R1221S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						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						GCTCATTATTCGCCGGGATCA	0.517000													13	39					6.72482e-11	1.00872e-10	0.024245	1	0
FGB	2244	broad.mit.edu	37	4	155487059	155487059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:155487059C>T	ENST00000302068.4	+	2	277	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	72			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTGGCTATCGGGCTCGTCC	0.592000													12	31					0	0	0.013537	0	0
LRGUK	136332	broad.mit.edu	37	7	133876489	133876489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:133876489G>T	ENST00000285928.2	+	12	1486	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	473	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGTTTTTGATGAAATGGTGAA	0.343000													13	41					4.3838e-07	5.718e-07	0.016723	1	0
USH2A	7399	broad.mit.edu	37	1	216373065	216373065	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:216373065C>A	ENST00000366943.2	-	17	4101	c.3715G>T	c.(3715-3717)Gcc>Tcc	p.A1239S	USH2A_ENST00000307340.3_Missense_Mutation_p.A1239S|USH2A_ENST00000366942.3_Missense_Mutation_p.A1239S|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1239					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)		GGGGCCTGGGCTGTGGTCACT	0.478000										HNSCC(13;0.011)			32	37					9.78306e-22	1.6771e-21	0.009535	1	0
PTPRG	5793	broad.mit.edu	37	3	61989085	61989085	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr3:61989085G>T	ENST00000474889.1	+	4	810	c.433G>T	c.(433-435)Gct>Tct	p.A145S	PTPRG_ENST00000295874.10_Missense_Mutation_p.A145S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	145	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGATTCAAAGCTGAGAAGGT	0.483000													22	20					1.9806e-07	2.6408e-07	0.014323	1	0
TMEM151A	256472	broad.mit.edu	37	11	66062568	66062568	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:66062568G>T	ENST00000327259.4	+	2	995	c.851G>T	c.(850-852)cGc>cTc	p.R284L		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	284						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						TGGTACGCGCGCGCCTGGGTC	0.692000													4	8					2.56e-06	3.16701e-06	0.009096	1	0
NUP160	23279	broad.mit.edu	37	11	47828670	47828670	+	Missense_Mutation	SNP	A	A	G	rs141856485	byFrequency	TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:47828670A>G	ENST00000378460.2	-	19	2444	c.2398T>C	c.(2398-2400)Tca>Cca	p.S800P	NUP160_ENST00000530326.1_Missense_Mutation_p.S686P|NUP160_ENST00000528071.1_Missense_Mutation_p.S686P	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	800					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCCAGTACTGATAAGTGTTGG	0.373000													12	30					0	0	0.020292	0	0
AQR	9716	broad.mit.edu	37	15	35149047	35149047	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr15:35149047C>T	ENST00000156471.5	-	35	4629	c.4404G>A	c.(4402-4404)ccG>ccA	p.P1468P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1468						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAGCTTCTGCCGGTGCAGATA	0.537000													5	68					0	0	0.014758	0	0
ANO10	55129	broad.mit.edu	37	3	43618536	43618536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr3:43618536G>T	ENST00000292246.3	-	6	980	c.810C>A	c.(808-810)taC>taA	p.Y270*	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Nonsense_Mutation_p.Y204*|ANO10_ENST00000451430.2_Nonsense_Mutation_p.Y159*|ANO10_ENST00000414522.2_Nonsense_Mutation_p.Y270*	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	270					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCCCCCACCTGTAGGTCATGT	0.527000													13	18					1.5842e-08	2.23652e-08	0.016723	1	0
OR5T1	390155	broad.mit.edu	37	11	56043703	56043703	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:56043703C>A	ENST00000313033.2	+	1	675	c.589C>A	c.(589-591)Ctt>Att	p.L197I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCCTCCTCTGCTTGCTATTTC	0.398000													51	121					8.72198e-27	1.53917e-26	0.014410	1	0
FAN1	22909	broad.mit.edu	37	15	31197966	31197966	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr15:31197966G>A	ENST00000362065.4	+	2	1391	c.1100G>A	c.(1099-1101)gGt>gAt	p.G367D	FAN1_ENST00000561594.1_Missense_Mutation_p.G367D|FAN1_ENST00000561607.1_Missense_Mutation_p.G367D|FAN1_ENST00000565466.1_Missense_Mutation_p.G367D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	367					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AATGGTCCTGGTCAAACAACC	0.468000								Direct reversal of damage					24	97					0	0	0.009535	0	0
RAE1	8480	broad.mit.edu	37	20	55948637	55948637	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr20:55948637C>T	ENST00000395841.2	+	9	1169	c.749C>T	c.(748-750)cCc>cTc	p.P250L	RAE1_ENST00000395840.2_Splice_Site_p.P250L|RAE1_ENST00000527947.1_Splice_Site_p.P250L|RAE1_ENST00000371242.2_Splice_Site_p.P250L	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	250					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CCCCCGAACCCGTAAGTGTGA	0.433000													21	55					0	0	0.008871	0	0
BBS12	166379	broad.mit.edu	37	4	123663547	123663547	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:123663547C>T	ENST00000542236.1	+	3	881	c.500C>T	c.(499-501)aCt>aTt	p.T167I	BBS12_ENST00000314218.3_Missense_Mutation_p.T167I	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	167					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCTTCAGATACTGATTTGATA	0.358000									Bardet-Biedl syndrome				23	43					0	0	0.016522	0	0
ATP10B	23120	broad.mit.edu	37	5	160033952	160033952	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:160033952C>G	ENST00000327245.5	-	19	3826	c.2980G>C	c.(2980-2982)Gct>Cct	p.A994P		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	994					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCAATCCAGCTTCTGGAACC	0.483000													31	84					0	0	0.012213	0	0
KCNH1	3756	broad.mit.edu	37	1	210977474	210977474	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:210977474C>T	ENST00000367007.4	-	8	1585	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	KCNH1_ENST00000271751.4_Silent_p.T499T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	499					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGAAAATAGTCGTCACATTCC	0.478000													3	31					0	0	0.009096	0	0
NME8	51314	broad.mit.edu	37	7	37916593	37916593	+	Silent	SNP	C	C	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:37916593C>G	ENST00000199447.4	+	12	1350	c.978C>G	c.(976-978)ctC>ctG	p.L326L	NME8_ENST00000440017.1_Silent_p.L326L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	326	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GACCAAATCTCTTTCATGAAA	0.303000													4	16					0	0	0.014758	0	0
MTR	4548	broad.mit.edu	37	1	236992566	236992566	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:236992566C>G	ENST00000366577.5	+	12	1467	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	MTR_ENST00000535889.1_Missense_Mutation_p.S358C	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	358					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATGTTACTGTCTGGTGAGTCA	0.418000													24	61					0	0	0.024334	0	0
GLOD5	392465	broad.mit.edu	37	X	48631819	48631819	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:48631819C>A	ENST00000303227.6	+	4	492	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						CGACAGAAATCTGATTGAGGT	0.552000													31	60					2.08457e-15	3.42669e-15	0.010818	1	0
NHS	4810	broad.mit.edu	37	X	17744475	17744475	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:17744475G>T	ENST00000380060.3	+	6	2524	c.2186G>T	c.(2185-2187)tGc>tTc	p.C729F	NHS_ENST00000398097.3_Missense_Mutation_p.C573F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	729						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGCCTGGGCTGCCCAAGCTTC	0.517000													38	115					4.62619e-21	7.81891e-21	0.019004	1	0
OR2A2	442361	broad.mit.edu	37	7	143807132	143807132	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:143807132G>T	ENST00000408979.2	+	1	526	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTGGGTTTGCCCTGTCCCT	0.522000													35	53					1.84765e-07	2.49121e-07	0.017118	1	0
HMGCS2	3158	broad.mit.edu	37	1	120306857	120306857	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:120306857C>A	ENST00000369406.3	-	2	546	c.497G>T	c.(496-498)tGc>tTc	p.C166F	HMGCS2_ENST00000544913.2_Missense_Mutation_p.C166F|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	166					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACCACCGTAGCAGGCATTGGT	0.488000													16	36					1.3612e-06	1.73771e-06	0.024245	1	0
RHOXF1	158800	broad.mit.edu	37	X	119249648	119249648	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:119249648G>T	ENST00000217999.2	-	1	199	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	42					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CATGAGGCCTGGAGCTCCTTG	0.587000													17	87					1.67942e-08	2.34337e-08	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179428664	179428664	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:179428664C>A	ENST00000589042.1	-	326	82419	c.82195G>T	c.(82195-82197)Ggt>Tgt	p.G27399C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18459C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24831C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G18526C|TTN_ENST00000591111.1_Missense_Mutation_p.G25758C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18334C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25758							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)			ATATTAGCACCACCATCTTGC	0.478000													18	51					3.41278e-10	4.99432e-10	0.004990	1	0
PON2	5445	broad.mit.edu	37	7	95034713	95034713	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr7:95034713C>A	ENST00000536183.1	-	9	1240	c.1057G>T	c.(1057-1059)Gta>Tta	p.V353L	PON2_ENST00000433091.2_Missense_Mutation_p.V320L|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000222572.3_Missense_Mutation_p.V332L	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	332					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTGAGGCTACAGAACTTCCT	0.433000													16	88					2.23348e-06	2.79186e-06	0.028581	1	0
ZBTB33	10009	broad.mit.edu	37	X	119387328	119387328	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:119387328A>T	ENST00000326624.2	+	2	286	c.58A>T	c.(58-60)Aac>Tac	p.N20Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.N20Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	20	Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTCTGCTGAACTCCTTGAA	0.453000													89	127					0	0	0.014410	0	0
RNFT2	84900	broad.mit.edu	37	12	117204665	117204665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:117204665C>T	ENST00000257575.4	+	6	907	c.674C>T	c.(673-675)gCg>gTg	p.A225V	RNFT2_ENST00000392549.2_Missense_Mutation_p.A225V|RNFT2_ENST00000407967.3_Missense_Mutation_p.A225V|RNFT2_ENST00000319176.7_Missense_Mutation_p.A225V			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	225						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCCTTTCTGGCGGGGAACACC	0.522000													4	4					0	0	0.014758	0	0
COMP	1311	broad.mit.edu	37	19	18897060	18897060	+	Silent	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr19:18897060G>A	ENST00000542601.2	-	11	1586	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	COMP_ENST00000222271.2_Silent_p.S432S|COMP_ENST00000425807.1_Silent_p.S379S			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	432					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGTCTTGATCGCTGTCACAAG	0.572000													15	41					0	0	0.004990	0	0
GNG3	2785	broad.mit.edu	37	11	62476150	62476150	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr11:62476150G>C	ENST00000294117.5	+	3	359	c.100G>C	c.(100-102)Gtg>Ctg	p.V34L	BSCL2_ENST00000433053.1_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000405837.1_Intron	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	34					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TGTGTCCCAGGTGTCCAAGGC	0.592000													17	33					0	0	0.028581	0	0
F8	2157	broad.mit.edu	37	X	154157894	154157894	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chrX:154157894C>A	ENST00000360256.4	-	14	4371	c.4171G>T	c.(4171-4173)Gat>Tat	p.D1391Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1391	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)	GTAAGGCAATCTGATAAGGGA	0.433000													94	140					5.00475e-40	9.23954e-40	0.014410	1	0
TMEM8A	58986	broad.mit.edu	37	16	424858	424858	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr16:424858T>C	ENST00000431232.2	-	9	1634	c.1474A>G	c.(1474-1476)Acc>Gcc	p.T492A	TMEM8A_ENST00000250930.3_Missense_Mutation_p.T299A	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	492					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACAAGGTGGTCTCCACG	0.607000													4	21					0	0	0.009096	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725895	140725895	+	Silent	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:140725895G>A	ENST00000253812.6	+	1	2295	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGCGGAAGAGCCACCTGA	0.592000													28	105					0	0	0.008361	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956472	10956472	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr6:10956472T>A	ENST00000283141.6	+	25	2456	c.2160T>A	c.(2158-2160)taT>taA	p.Y720*		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	720						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAAGAAAATATGAGGTAGTAG	0.388000													8	23					0	0	0.003080	0	0
OR10C1	442194	broad.mit.edu	37	6	29408136	29408136	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr6:29408136C>A	ENST00000444197.2	+	1	1054	c.344C>A	c.(343-345)gCa>gAa	p.A115E	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCCTCCTGGCAGCCATGGCC	0.617000													22	41					7.41877e-09	1.05982e-08	0.012319	1	0
C20orf26	26074	broad.mit.edu	37	20	20055897	20055897	+	Silent	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr20:20055897C>T	ENST00000245957.5	+	5	512	c.436C>T	c.(436-438)Cta>Tta	p.L146L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.L146L|C20orf26_ENST00000377306.1_Silent_p.L146L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	146										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTACATGAGCCTAGGTAAGGC	0.507000													13	52					0	0	0.016723	0	0
MAG	4099	broad.mit.edu	37	19	35793406	35793406	+	Silent	SNP	G	G	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr19:35793406G>A	ENST00000361922.4	+	7	1176	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	MAG_ENST00000537831.2_Silent_p.T317T|MAG_ENST00000392213.3_Silent_p.T342T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577000													9	17					0	0	0.004482	0	0
CLGN	1047	broad.mit.edu	37	4	141334194	141334194	+	Silent	SNP	C	C	A			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr4:141334194C>A	ENST00000325617.5	-	2	479	c.39G>T	c.(37-39)ctG>ctT	p.L13L	CLGN_ENST00000537281.1_Silent_p.L13L|CLGN_ENST00000414773.1_Silent_p.L13L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	13					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGAGATGAACAGAAGACCCA	0.299000													15	37					1.15088e-07	1.56938e-07	0.028581	1	0
FLG	2312	broad.mit.edu	37	1	152283571	152283571	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr1:152283571C>T	ENST00000368799.1	-	3	3826	c.3791G>A	c.(3790-3792)aGg>aAg	p.R1264K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1264	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGGTGCCTGCTTGTCCT	0.557000									Ichthyosis				68	185					0	0	0.014410	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772771	140772771	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:140772771C>T	ENST00000398604.2	+	1	391	c.391C>T	c.(391-393)Cca>Tca	p.P131S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAATAACCCAAAATTCCA	0.423000													19	54					0	0	0.008871	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998249	108998250	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:108998249_108998250insAT	ENST00000272452.2	+	2	527_528	c.201_202insAT	c.(202-204)atafs	p.I68fs	SULT1C4_ENST00000409309.3_Frame_Shift_Ins_p.I68fs	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	68			I -> M (in dbSNP:rs41322445).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TAGTGGAATTAATACAAAATGA	0.371													16	28	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													9	18	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708698	180708699	+	RNA	INS	-	-	G	rs1815381		TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr5:180708698_180708699insG	ENST00000412295.2	+	0	238																											gggcggtaggcgggggctggag	0.723													3	5	---	---	---	---					
PHLDA1	22822	broad.mit.edu	37	12	76424771	76424771	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:76424771delA	ENST00000266671.5	-	1	2941	c.751delT	c.(751-753)tacfs	p.Y251fs	PHLDA1_ENST00000602540.1_Frame_Shift_Del_p.Y110fs|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	251	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				ACAGTGAAGTACATGTACTTG	0.592													17	38	---	---	---	---					
MLXIP	22877	broad.mit.edu	37	12	122618566	122618567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr12:122618566_122618567insC	ENST00000377037.2	+	2	534_535	c.534_535insC	c.(535-537)cccfs	p.P179fs	MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.7_Intron			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	58	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGTGCGGGGCTCCCCCCGACCC	0.584													6	5	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105414308	105414311	+	Frame_Shift_Del	DEL	CGAA	CGAA	-			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr14:105414308_105414311delCGAA	ENST00000333244.5	-	7	7596_7599	c.7477_7480delTTCG	c.(7477-7482)ttcgggfs	p.FG2493fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2493						nucleus		p.G2494W(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACCCCGAATGACGGCATC	0.608													8	249	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													2	4	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498257	18498258	+	RNA	INS	-	-	T			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr17:18498257_18498258insT	ENST00000442583.1	-	0	783																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						GTATTTCTCCATTTTTTTTGTA	0.287													4	3	---	---	---	---					
PHLDB3	653583	broad.mit.edu	37	19	44008096	44008098	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr19:44008096_44008098delCTT	ENST00000292140.5	-	2	533_535	c.173_175delAAG	c.(172-177)gaagtg>gtg	p.E58del	PHLDB3_ENST00000599242.1_In_Frame_Del_p.E58del	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	58										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCTTCTCCCACTTCTTCTTCCTC	0.700													19	52	---	---	---	---					
DSCR9	257203	broad.mit.edu	37	21	38593877	38593877	+	RNA	DEL	G	G	-			TCGA-FD-A3B4-01A-12D-A202-08	TCGA-FD-A3B4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df922c85-5a10-487f-a9d5-220d5090e2e4	3f2fb363-1a49-47a7-af66-ee3d6ad4babf	g.chr21:38593877delG	ENST00000454482.2	+	0	1484				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						CGTTCCCCTTGCCCACCAAGA	0.522													21	46	---	---	---	---