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
TAS1R2	80834	broad.mit.edu	37	1	19181421	19181421	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:19181421C>T	uc001bba.1	-	2	544	c.543G>A	c.(541-543)ctG>ctA	p.L181L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	181					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGTGGTACGCAGCAAAGCCG	0.622												
COL16A1	1307	broad.mit.edu	37	1	32126216	32126216	+	Silent	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:32126216G>T	uc001btk.1	-	61	4214	c.3849C>A	c.(3847-3849)ccC>ccA	p.P1283P	COL16A1_uc001btj.1_Silent_p.P1081P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1283	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTTCCCTGGGGTCCCATGG	0.547												
DAB1	1600	broad.mit.edu	37	1	57491656	57491656	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:57491656G>A	uc009vzx.1	-	9	1104	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc001cys.1_Missense_Mutation_p.P262S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	295					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATACTTACGGGGGGAGAGGTT	0.463												
HFM1	164045	broad.mit.edu	37	1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:91846537C>T	uc001doa.4	-	6	904	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P268L(2)|p.A269T(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219												
CCDC18	343099	broad.mit.edu	37	1	93649564	93649564	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:93649564C>T	uc021opx.1	+	2	325	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	55										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTGATTATGCCCCTAATCCT	0.323												
PHGDH	26227	broad.mit.edu	37	1	120285535	120285535	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:120285535C>G	uc001ehz.3	+	10	1542	c.1315C>G	c.(1315-1317)Caa>Gaa	p.Q439E	PHGDH_uc009whm.3_Missense_Mutation_p.Q337E|PHGDH_uc001eib.3_Missense_Mutation_p.Q405E	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	439					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGGCTTGGTCCAAGGCACTAC	0.657												
THBS3	7059	broad.mit.edu	37	1	155170717	155170719	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155170717_155170719delCAT	uc001fix.3	-	12	1622_1624	c.1517_1519delATG	c.(1516-1521)gatgct>gct	p.D506del	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_In_Frame_Del_p.D386del|THBS3_uc009wqi.3_In_Frame_Del_p.D497del|THBS3_uc001fiy.3_In_Frame_Del_p.D35del|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	506					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCATCAGCATCATCATCACA	0.542												
GON4L	55249	broad.mit.edu	37	1	155629578	155629578	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155629578C>G	uc010pgi.2	-	9	2729	c.2537G>C	c.(2536-2538)gGa>gCa	p.G846A	GON4L_uc021paz.1_Missense_Mutation_p.G688A|GON4L_uc010pgg.2_Missense_Mutation_p.G593A|GON4L_uc010pgh.2_Missense_Mutation_p.G697A|GON4L_uc009wqt.3_Missense_Mutation_p.G677A|GON4L_uc001flh.3_Missense_Mutation_p.G826A|GON4L_uc001fll.3_Missense_Mutation_p.G708A|GON4L_uc001flk.3_Missense_Mutation_p.G697A|GON4L_uc001flm.3_Missense_Mutation_p.G697A|GON4L_uc009wqu.3_Missense_Mutation_p.G541A|GON4L_uc009wqv.3_Missense_Mutation_p.G425A|GON4L_uc009wqw.3_Missense_Mutation_p.G677A|GON4L_uc001flj.3_Missense_Mutation_p.G688A|GON4L_uc001fli.3_Missense_Mutation_p.G708A|GON4L_uc001flo.3_Missense_Mutation_p.G642A|GON4L_uc001fln.3_Missense_Mutation_p.G754A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.G708A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1298					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTTGCCTTCCCTCCTCTGT	0.527												
CFHR1	10878	broad.mit.edu	37	1	196749091	196749091	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749091T>C	uc001gtl.3	+	2	505	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.C140R|CFHR1_uc010poy.2_Missense_Mutation_p.C140R|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	140	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TACTCCCAGATGCATCCGTGT	0.493												
CFHR1	10878	broad.mit.edu	37	1	196749101	196749101	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749101T>A	uc001gtl.3	+	2	515	c.428T>A	c.(427-429)gTc>gAc	p.V143D	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.V143D|CFHR1_uc010poy.2_Missense_Mutation_p.V143D|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	143					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGCATCCGTGTCAGTAAGTAC	0.478												
OR2G2	81470	broad.mit.edu	37	1	247752159	247752159	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:247752159C>T	uc010pyy.2	+	0	498	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T166T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCACCCTCACCCTGCAGCTGC	0.542												
PDCD11	22984	broad.mit.edu	37	10	105176336	105176336	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:105176336A>G	uc001kwy.1	+	12	1694	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	536					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTACCTGCTATGCCGATGCC	0.493											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1598	57698	broad.mit.edu	37	10	118671332	118671332	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:118671332T>G	uc021pzk.1	-	13	1826	c.1328A>C	c.(1327-1329)gAa>gCa	p.E443A	KIAA1598_uc009xyw.3_Missense_Mutation_p.E443A|KIAA1598_uc001lcz.4_Missense_Mutation_p.E443A|KIAA1598_uc010qso.2_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.4_Missense_Mutation_p.E413A	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	443					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CACTGCACTTTCGCAGCCTTT	0.299												
CPXM2	119587	broad.mit.edu	37	10	125506512	125506512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:125506512C>T	uc001lhk.1	-	13	2364	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	680					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R680S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTTCAGGAGGCGCCAGTAATC	0.547												
HPS5	11234	broad.mit.edu	37	11	18309168	18309168	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:18309168C>T	uc001mod.1	-	17	2909	c.2631G>A	c.(2629-2631)tcG>tcA	p.S877S	HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	877						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATGATATCCGATGGCAAAA	0.408									Hermansky-Pudlak syndrome			
SLC5A12	159963	broad.mit.edu	37	11	26708091	26708091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:26708091delC	uc001mra.2	-	10	1467	c.1154_splice	c.e10-1	p.C385_splice	SLC5A12_uc001mrb.2_Splice_Site	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	385					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATAAGAGACCTGAAAGAAA	0.453												
EXT2	2132	broad.mit.edu	37	11	44129545	44129545	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:44129545C>T	uc001mya.3	+	1	438	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	EXT2_uc010rfo.2_Missense_Mutation_p.R123C|EXT2_uc009ykt.3_Missense_Mutation_p.R95C|EXT2_uc001mxz.3_Missense_Mutation_p.R95C	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	95					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.R95C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGATGTCTATCGCTGTGGCTT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses			
OR4A5	81318	broad.mit.edu	37	11	51412077	51412077	+	Missense_Mutation	SNP	C	C	T	rs5002407		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:51412077C>T	uc001nhi.2	-	0	372	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTCAGCCCCACCAAAGAAA	0.443												
MMP13	4322	broad.mit.edu	37	11	102816396	102816396	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102816396C>A	uc001phl.3	-	8	1323	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	432	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAGACAGCATCTACTTTATCA	0.328												
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102826101C>T	uc001phl.3	-	1	271	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473												
OR10G8	219869	broad.mit.edu	37	11	123900834	123900834	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:123900834G>A	uc001pzp.1	+	0	505	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G169A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCTACTGTGGACCCAACTG	0.537												
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:2716164C>T	uc009zdu.1	+	26	3597	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557												
C1S	716	broad.mit.edu	37	12	7174399	7174399	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:7174399T>A	uc001qsj.3	+	11	1763	c.1044T>A	c.(1042-1044)agT>agA	p.S348R	C1S_uc001qsk.3_Missense_Mutation_p.S348R|C1S_uc001qsl.3_Missense_Mutation_p.S348R|C1S_uc009zfr.3_Missense_Mutation_p.S181R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	348	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAAGTGGAGTAATTCCAAAC	0.368												
SYT10	341359	broad.mit.edu	37	12	33538180	33538180	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:33538180G>A	uc001rll.1	-	3	1421	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SYT10_uc009zju.1_Missense_Mutation_p.P185L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	375	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCAGCCGTCGGTAGGTAACA	0.438												
C12orf68	387856	broad.mit.edu	37	12	48578422	48578422	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:48578422C>T	uc001rrj.2	+	0	1057	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	173						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGGGACGGGCCACTTGTGGA	0.662												
SCN8A	6334	broad.mit.edu	37	12	52180608	52180608	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:52180608G>A	uc001ryw.3	+	21	4403	c.4225G>A	c.(4225-4227)Gta>Ata	p.V1409I	SCN8A_uc010snl.2_Missense_Mutation_p.V1368I|SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1409					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTCTTCAAGTAGTAAGTAG	0.403												
TESPA1	9840	broad.mit.edu	37	12	55356553	55356553	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:55356553C>T	uc010spd.1	-	8	1262	c.1129G>A	c.(1129-1131)Gca>Aca	p.A377T	TESPA1_uc001sgl.3_Missense_Mutation_p.A239T|TESPA1_uc001sgm.3_Missense_Mutation_p.A124T|TESPA1_uc010spb.1_Missense_Mutation_p.A124T|TESPA1_uc010spc.1_Missense_Mutation_p.A239T|TESPA1_uc001sgn.3_Missense_Mutation_p.A377T	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	377																	TGGGATGGTGCTAGCACTGTG	0.527												
HCAR2	338442	broad.mit.edu	37	12	123187080	123187080	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:123187080G>A	uc001ucx.1	-	0	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	251					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	ATGCGGATCCGCACAACCACG	0.542												
KLHL1	57626	broad.mit.edu	37	13	70535514	70535514	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr13:70535514G>A	uc001vip.3	-	2	1537	c.743C>T	c.(742-744)gCc>gTc	p.A248V	KLHL1_uc010thm.2_Missense_Mutation_p.A187V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	248	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413												
SPTB	6710	broad.mit.edu	37	14	65245925	65245925	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr14:65245925C>T	uc001xht.3	-	20	4564	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	SPTB_uc001xhr.3_Missense_Mutation_p.D1505N|SPTB_uc001xhs.3_Missense_Mutation_p.D1505N|SPTB_uc001xhu.3_Missense_Mutation_p.D1505N|SPTB_uc010aqi.3_Missense_Mutation_p.D166N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1505					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCATAGTCGGCTGACTGG	0.587												
TYRO3	7301	broad.mit.edu	37	15	41859568	41859568	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:41859568C>A	uc001zof.2	+	6	1030	c.794C>A	c.(793-795)gCc>gAc	p.A265D		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	265	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A265G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACACAGGCCCCAGGAGGC	0.557												
SPTBN5	51332	broad.mit.edu	37	15	42168354	42168354	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:42168354G>A	uc001zos.3	-	20	4308	c.3975C>T	c.(3973-3975)agC>agT	p.S1325S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1360					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGTAGCTCGCTCTCAGCTG	0.622												
HERC1	8925	broad.mit.edu	37	15	63948489	63948489	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:63948489C>T	uc002amp.3	-	48	9816	c.9668G>A	c.(9667-9669)cGa>cAa	p.R3223Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3223					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACATTAATCGAACTAGCGT	0.532												
TMC3	342125	broad.mit.edu	37	15	81628948	81628948	+	Splice_Site	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:81628948A>G	uc021ssk.1	-	20	2203	c.2203_splice	c.e20+1	p.A735_splice	TMC3_uc021ssj.1_Splice_Site|TMC3_uc010blr.1_Splice_Site	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	735				A -> AA (in Ref. 1; AAP78778).		integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACTTACCTTCTACCA	0.428												
IL34	146433	broad.mit.edu	37	16	70693910	70693910	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr16:70693910C>A	uc002ezh.2	+	6	1104	c.549C>A	c.(547-549)agC>agA	p.S183R	IL34_uc002ezi.2_Missense_Mutation_p.S182R|IL34_uc021tkk.1_Missense_Mutation_p.S183R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	183					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTAAACAAAGCTCCGTCCTAA	0.562												
TTC25	83538	broad.mit.edu	37	17	40092757	40092757	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:40092757G>A	uc002hyj.4	+	3	518	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TTC25_uc021txp.1_Silent_p.G143G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	143						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGAACAAAGGGGACCTCTCCT	0.522												
BZRAP1	9256	broad.mit.edu	37	17	56389930	56389930	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:56389930C>G	uc002ivx.4	-	16	3123	c.2252G>C	c.(2251-2253)gGc>gCc	p.G751A	BZRAP1_uc010dcs.3_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.2_Missense_Mutation_p.G751A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	751						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTACTGCTGCCACCCCCACC	0.632												
RYR1	6261	broad.mit.edu	37	19	38990280	38990280	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:38990280A>C	uc002oit.3	+	43	7163	c.7033A>C	c.(7033-7035)Agc>Cgc	p.S2345R	RYR1_uc002oiu.3_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2345	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCAGGCGAGAGCGTGGAGGA	0.667												
CADM4	199731	broad.mit.edu	37	19	44130439	44130439	+	Silent	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:44130439T>C	uc002oxc.1	-	5	549	c.500_splice	c.e5-1	p.G167_splice		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	167	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGCTGCTCACTCCTGCCACAC	0.592												
EML2	24139	broad.mit.edu	37	19	46124852	46124852	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:46124852G>A	uc010xxm.2	-	12	1561	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	EML2_uc002pcn.3_Silent_p.G295G|EML2_uc002pcp.3_Silent_p.G179G|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.G442G|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.G295G|EML2_uc010ekj.3_Missense_Mutation_p.A262V	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	295					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CAAACACGCCGCCGTCGTGGG	0.687												
ZNF324B	388569	broad.mit.edu	37	19	58967238	58967238	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:58967238C>T	uc002qsv.1	+	3	1034	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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;0.0164)|Lung(386;0.179)		TCCACAGCGGCGAGACGCCCT	0.687												
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:50850508C>T	uc021vhh.1	-	4	1999	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	NRXN1_uc002rxb.4_Missense_Mutation_p.G40R|NRXN1_uc021vhg.1_Missense_Mutation_p.G393R|NRXN1_uc021vhi.1_Missense_Mutation_p.G389R|NRXN1_uc021vhj.1_Missense_Mutation_p.G356R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458												
PROM2	150696	broad.mit.edu	37	2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:95947910C>T	uc002suk.3	+	13	1797	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PROM2_uc002suh.2_Missense_Mutation_p.A555V|PROM2_uc002sui.3_Missense_Mutation_p.A555V|PROM2_uc002suj.3_Missense_Mutation_p.A209V|PROM2_uc002sul.3_Missense_Mutation_p.A81V|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	555						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGGGCAGCGCTCTGGACA	0.627												
MCM6	4175	broad.mit.edu	37	2	136630337	136630337	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:136630337C>G	uc002tuw.3	-	1	260	c.184G>C	c.(184-186)Gtt>Ctt	p.V62L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	62					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AAACTCACAACCAATGTGTTT	0.403												
TTN	7273	broad.mit.edu	37	2	179458739	179458739	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:179458739C>T	uc021vsy.1	-	245	50902	c.50677G>A	c.(50677-50679)Gtg>Atg	p.V16893M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10588M|TTN_uc021vta.1_Missense_Mutation_p.V10521M|TTN_uc021vtb.1_Missense_Mutation_p.V10396M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17820	Fibronectin type-III 22.						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)			CTGTTCTCCACAACCACACAG	0.403												
ALS2CR12	130540	broad.mit.edu	37	2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:202216040G>A	uc010ftg.3	-	1	532	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_uc002uya.4_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	30					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517												
THAP4	51078	broad.mit.edu	37	2	242573479	242573479	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:242573479G>A	uc002wbt.3	-	1	386	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	31							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTTTTGAGTCCTTTAGGG	0.353												
ADAMTS1	9510	broad.mit.edu	37	21	28212824	28212824	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr21:28212824C>A	uc002ymf.3	-	4	1891	c.1436G>T	c.(1435-1437)gGc>gTc	p.G479V		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	479	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACGAGGTGCCAGGGAGATC	0.527												
PRAME	23532	broad.mit.edu	37	22	22893261	22893261	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr22:22893261T>C	uc002zwf.3	-	2	428	c.272A>G	c.(271-273)cAt>cGt	p.H91R	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.H75R|PRAME_uc010gtr.3_Missense_Mutation_p.H91R|PRAME_uc002zwg.3_Missense_Mutation_p.H91R|PRAME_uc002zwh.3_Missense_Mutation_p.H91R|PRAME_uc002zwi.3_Missense_Mutation_p.H91R|PRAME_uc002zwj.3_Missense_Mutation_p.H91R|PRAME_uc002zwk.3_Missense_Mutation_p.H91R	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	91					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTGAAGATGTTGTCCCTT	0.582												
FANCD2	2177	broad.mit.edu	37	3	10108908	10108908	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10108908T>C	uc003buw.3	+	25	2479	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	801					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATGCCTTCTGCCAGGAAAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
IRAK2	3656	broad.mit.edu	37	3	10254939	10254939	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10254939G>A	uc003bve.1	+	4	653	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	193					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGCTTGGCTGGAGACAGCCT	0.493												
FGD5	152273	broad.mit.edu	37	3	14862951	14862951	+	Silent	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:14862951C>A	uc003bzc.3	+	0	2483	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	FGD5_uc011avk.2_Silent_p.P791P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	791					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A791A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537												
XIRP1	165904	broad.mit.edu	37	3	39229284	39229284	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:39229284C>T	uc003cjk.2	-	1	1882	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	XIRP1_uc003cji.3_Silent_p.R551R|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.R551R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	551	Interaction with CTNNB1 (By similarity).		R -> Q (in dbSNP:rs34121641).				actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAAAAAGCCACCGAGCTGTGC	0.632												
IMPDH2	3615	broad.mit.edu	37	3	49062153	49062153	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:49062153G>A	uc003cvt.3	-	11	1470	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	460					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAGCAATCAGGTAAGGGACA	0.552												
PBRM1	55193	broad.mit.edu	37	3	52595840	52595840	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:52595840G>A	uc003des.2	-	24	4243	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1411					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCCACCAGGCGGCTGAGCTCC	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
ATXN7	6314	broad.mit.edu	37	3	63981678	63981678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:63981678delC	uc003dlv.3	+	11	2733	c.2180delC	c.(2179-2181)tctfs	p.S727fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.S727fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S582fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	727	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		tcctcctcttcttcTCATTCC	0.512												
FNDC3B	64778	broad.mit.edu	37	3	172065012	172065012	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:172065012G>C	uc003fhy.3	+	20	2547	c.2375G>C	c.(2374-2376)aGt>aCt	p.S792T	FNDC3B_uc003fhz.4_Missense_Mutation_p.S792T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	792	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTCCTGATAGTTCTGGTGCT	0.398												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
IL1RAP	3556	broad.mit.edu	37	3	190345166	190345166	+	Missense_Mutation	SNP	G	G	A	rs138101360		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:190345166G>A	uc010hzg.2	+	8	1251	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IL1RAP_uc003fsk.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R277H|IL1RAP_uc003fso.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.R277H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	277	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGATTCTCGCAATGAGGTT	0.378												
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:195505813T>C	uc021xjp.1	-	1	12794	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592												
UGT2B11	10720	broad.mit.edu	37	4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:70079956G>A	uc003heh.3	-	0	494	c.485C>T	c.(484-486)gCg>gTg	p.A162V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	162					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A162V(2)|p.A162A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423												
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348												
TMEM174	134288	broad.mit.edu	37	5	72469396	72469396	+	Missense_Mutation	SNP	C	C	T	rs34059261	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:72469396C>T	uc010izc.3	+	0	374	c.326C>T	c.(325-327)cCg>cTg	p.P109L		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	109						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAAGGGTCCCGGACTCGGAA	0.527												
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:137803019C>A	uc003ldb.1	+	1	1151	c.881C>A	c.(880-882)gCc>gAc	p.A294D		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627												
DSP	1832	broad.mit.edu	37	6	7583937	7583937	+	Missense_Mutation	SNP	G	G	A	rs144539278		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:7583937G>A	uc003mxp.1	+	23	6721	c.6442G>A	c.(6442-6444)Gcc>Acc	p.A2148T	DSP_uc003mxq.1_Missense_Mutation_p.A1549T|DSP_uc021yle.1_Missense_Mutation_p.A1705T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2148	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGATGTCGCCTTGGCCCG	0.478												
HIST1H2AM	8336	broad.mit.edu	37	6	27860752	27860752	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:27860752A>T	uc003nkb.1	-	0	212	c.176T>A	c.(175-177)cTa>cAa	p.L59Q	HIST1H3J_uc003nka.3_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2am (HIST1H2AM), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.Y58H(1)|p.Y58N(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGGCAGTTAGGTACTCCAG	0.662												
NEU1	4758	broad.mit.edu	37	6	31830506	31830506	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:31830506C>T	uc003nxq.4	-	0	204	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	16						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GAATCCGCGGCCCCCAGCGTC	0.662												
PKHD1	5314	broad.mit.edu	37	6	51751972	51751972	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:51751972C>T	uc003pah.1	-	43	7344	c.7068G>A	c.(7066-7068)ccG>ccA	p.P2356P	PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.3_Silent_p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2356					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.P2356P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAGAAGCGGAGCTTGTG	0.388												
C6orf165	154313	broad.mit.edu	37	6	88170826	88170826	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:88170826G>A	uc003plv.3	+	11	1704	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.T339T|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	527										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCCACCAACGATTGTGAGAT	0.328												
SDK1	221935	broad.mit.edu	37	7	4215452	4215452	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:4215452T>C	uc003smx.3	+	33	5121	c.4982T>C	c.(4981-4983)aTg>aCg	p.M1661T	SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.M148T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1661	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCGACGATGTGTGAACTA	0.582												
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:37780665C>G	uc003tfm.1	+	0	670	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	224						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q224*(2)|p.Q224K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438												
GLI3	2737	broad.mit.edu	37	7	42004153	42004153	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:42004153G>A	uc011kbh.2	-	14	4609	c.4518C>T	c.(4516-4518)ttC>ttT	p.F1506F	GLI3_uc011kbg.2_Silent_p.F1447F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1506	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGATGGCATCGAAGTCAATCT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly			
SEMA3E	9723	broad.mit.edu	37	7	83095907	83095907	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:83095907G>T	uc003uhy.2	-	3	968	c.347C>A	c.(346-348)gCa>gAa	p.A116E	SEMA3E_uc022agy.1_Missense_Mutation_p.A56E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	116	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACATAATTTGCACATTCACC	0.388												
SAMD9L	219285	broad.mit.edu	37	7	92763418	92763418	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:92763418T>G	uc003umh.1	-	4	3083	c.1867A>C	c.(1867-1869)Aaa>Caa	p.K623Q	SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.K623Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	623										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTTAGTTTAAGGATAGTG	0.383												
TRRAP	8295	broad.mit.edu	37	7	98581850	98581850	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:98581850G>A	uc003upp.3	+	59	9378	c.9169G>A	c.(9169-9171)Gct>Act	p.A3057T	TRRAP_uc011kis.2_Missense_Mutation_p.A3028T|TRRAP_uc003upr.3_Missense_Mutation_p.A2745T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3057	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCAATGTAGCTCTGGATAT	0.448												
ZCWPW1	55063	broad.mit.edu	37	7	99998699	99998699	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:99998699C>T	uc003uut.3	-	17	2133	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZCWPW1_uc011kjq.2_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	629							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCTCCCCGCTCTGCCCC	0.602												
NEFM	4741	broad.mit.edu	37	8	24772136	24772136	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:24772136T>C	uc003xed.4	+	0	863	c.830T>C	c.(829-831)cTc>cCc	p.L277P	NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	277	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCTCCCAGCTCGAAAGCCAC	0.587												
ANK1	286	broad.mit.edu	37	8	41753935	41753935	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:41753935G>C	uc003xom.3	-	0	346	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S22L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCCTTCTGCTCCTGGAGG	0.637												
RALYL	138046	broad.mit.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:85774569G>A	uc003yct.4	+	5	625	c.491G>A	c.(490-492)cGt>cAt	p.R164H	RALYL_uc003ycq.4_Missense_Mutation_p.R151H|RALYL_uc003ycr.4_Missense_Mutation_p.R151H|RALYL_uc003ycs.4_Missense_Mutation_p.R151H|RALYL_uc010lzy.3_Missense_Mutation_p.R140H|RALYL_uc003ycu.4_Missense_Mutation_p.R78H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	151							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498												
KCNS2	3788	broad.mit.edu	37	8	99440635	99440635	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:99440635G>A	uc003yin.3	+	1	778	c.428G>A	c.(427-429)aGc>aAc	p.S143N	KCNS2_uc022azb.1_Missense_Mutation_p.S143N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCAGGAGAGCACCACGTCT	0.582												
FAM75D4	389761	broad.mit.edu	37	9	84547720	84547720	+	Missense_Mutation	SNP	G	G	C	rs138456481	by1000genomes	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:84547720G>C	uc004amh.2	+	3	2730	c.2644G>C	c.(2644-2646)Ggc>Cgc	p.G882R	AK097447_uc004ami.1_Intron|DQ577940_uc004amj.1_5'Flank	NM_001145197	NP_001138669	Q6ZUB0	YI020_HUMAN	Homo sapiens family with sequence similarity 75, member D4 (FAM75D4), mRNA.	882						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(57)|ovary(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						TGAGGACCACGGCGTTGATAC	0.418												
AK124523	0	broad.mit.edu	37	9	88460853	88460853	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:88460853A>G	uc022bjc.1	+	0		c.1754A>G								Homo sapiens cDNA FLJ42532 fis, clone BRACE3003004.																		ACTGAAACACAAAAGCAGCTA	0.393												
SNX30	401548	broad.mit.edu	37	9	115598647	115598647	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:115598647A>T	uc004bgj.4	+	4	920	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	SNX30_uc004bgi.4_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	258					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAACTGGGAACCATTGATCG	0.498												
FRMD7	90167	broad.mit.edu	37	X	131212279	131212279	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:131212279C>A	uc004ewn.3	-	11	1944	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	FRMD7_uc022cdy.1_Missense_Mutation_p.R469M|FRMD7_uc011muy.2_Missense_Mutation_p.R574M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	589					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGGGACCTTTTAGGGGT	0.433												
GPR50	9248	broad.mit.edu	37	X	150349759	150349759	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:150349759C>T	uc010ntg.2	+	1	1842	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	568	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCCGCTGGGCCCA	0.602												
