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
SCNN1D	6339	broad.mit.edu	37	1	1222931	1222931	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:1222931A>G	uc001adt.1	+	9	1580	c.1354A>G	c.(1354-1356)Acg>Gcg	p.T452A	SCNN1D_uc001adu.1_Missense_Mutation_p.T288A|SCNN1D_uc001adw.2_Missense_Mutation_p.T354A|SCNN1D_uc001adv.2_Missense_Mutation_p.T288A|SCNN1D_uc001adx.2_Silent_p.T51T	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGCTGCTACACGGTCGATGG	0.677												
ACTL8	81569	broad.mit.edu	37	1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:18152553G>A	uc001bat.3	+	2	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	214						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCMH1	22955	broad.mit.edu	37	1	41514522	41514522	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:41514522G>A	uc001cgo.3	-	10	1485	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	SCMH1_uc010ojr.2_Silent_p.H214H|SCMH1_uc001cgp.3_Silent_p.H311H|SCMH1_uc001cgr.3_Silent_p.H311H|SCMH1_uc001cgq.3_Silent_p.H325H|SCMH1_uc001cgs.3_Silent_p.H382H|SCMH1_uc001cgt.3_Silent_p.H311H|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	372					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TCTTATCTAAGTGGGGGCCTG	0.493												
CPT2	1376	broad.mit.edu	37	1	53666396	53666396	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:53666396C>T	uc001cvb.4	+	1	673	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	53					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCAGGCTGCCTATTCCCAAA	0.433												
FLG	2312	broad.mit.edu	37	1	152284782	152284782	+	Silent	SNP	C	C	T	rs146300888	byFrequency	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:152284782C>T	uc001ezu.1	-	2	2616	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	860	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S860>?(2)		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)			ACCTATCTACCGATTGCTCGT	0.587									Ichthyosis			
PKLR	5313	broad.mit.edu	37	1	155264053	155264053	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:155264053C>T	uc001fkb.4	-	6	1128	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	PKLR_uc001fka.4_Silent_p.A332A	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGGCTTGCCCGCCAAGTTGC	0.577												
MPZL1	9019	broad.mit.edu	37	1	167757139	167757139	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:167757139C>T	uc001geo.3	+	5	993	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Missense_Mutation_p.A114V|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	264					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GTGGTGTATGCGGATATCCGA	0.448												
HMCN1	83872	broad.mit.edu	37	1	185956672	185956672	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:185956672C>G	uc001grq.1	+	19	3273	c.3044C>G	c.(3043-3045)tCc>tGc	p.S1015C	HMCN1_uc001grr.1_Missense_Mutation_p.S356C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1015	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCATCTGGTCCAAGGTAAAT	0.458												
RBBP5	5929	broad.mit.edu	37	1	205065884	205065884	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:205065884G>A	uc010prd.2	-	10	1708	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	RBBP5_uc010pre.2_Missense_Mutation_p.S314L|RBBP5_uc001hbu.2_Missense_Mutation_p.S441L|RBBP5_uc001hbv.2_Missense_Mutation_p.S441L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	441					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCTGCTGAGGACTGCCT	0.493												
KCNK1	3775	broad.mit.edu	37	1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:233802400G>A	uc010pxo.1	+	1	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582												
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:237947838G>A	uc001hyl.1	+	89	12946	c.12826G>A	c.(12826-12828)Gtg>Atg	p.V4276M	RYR2_uc010pya.2_Missense_Mutation_p.V691M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4276					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468												
NLRP3	114548	broad.mit.edu	37	1	247587842	247587842	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:247587842G>A	uc001icr.3	+	4	1235	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	NLRP3_uc001ics.3_Missense_Mutation_p.R366Q|NLRP3_uc001icu.3_Missense_Mutation_p.R366Q|NLRP3_uc001icw.3_Missense_Mutation_p.R366Q|NLRP3_uc001icv.3_Missense_Mutation_p.R366Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R364Q|NLRP3_uc001ict.1_Missense_Mutation_p.R364Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	366	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCATCCTCGGCATGTGGAG	0.547												
MYO3A	53904	broad.mit.edu	37	10	26465747	26465747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr10:26465747C>T	uc001isn.2	+	30	4771	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1471					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTAATAGACGAGTTTCTTC	0.378												
OR5D16	390144	broad.mit.edu	37	11	55606359	55606359	+	Silent	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:55606359T>C	uc010rio.2	+	0	132	c.132T>C	c.(130-132)aaT>aaC	p.N44N		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTAGGGAATCTTGGGATGA	0.438												
OR5AR1	219493	broad.mit.edu	37	11	56431688	56431688	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:56431688A>G	uc010rjm.2	+	0	527	c.527A>G	c.(526-528)cAt>cGt	p.H176R	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCATCAATCATTTCTTCTGC	0.488												
LRRC32	2615	broad.mit.edu	37	11	76372493	76372493	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:76372493C>T	uc001oxq.4	-	2	387	c.144G>A	c.(142-144)ccG>ccA	p.P48P	LRRC32_uc001oxr.4_Silent_p.P48P|LRRC32_uc010rsf.2_Silent_p.P48P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	48						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGTCTGGCGGGAGCACCG	0.622												
LOC100288778	100288778	broad.mit.edu	37	12	90902	90902	+	Silent	SNP	C	C	T	rs138004684	by1000genomes	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:90902C>T	uc010scy.2	+	9	1323	c.768C>T	c.(766-768)gaC>gaT	p.D256D	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Silent_p.D256D|LOC100288778_uc010sdf.2_Silent_p.D256D|LOC100288778_uc010sdg.2_Silent_p.D256D|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		CACAGGTAGACGAGGACAAGG	0.647												
PTPRR	5801	broad.mit.edu	37	12	71078010	71078010	+	Missense_Mutation	SNP	G	G	A	rs150540173		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:71078010G>A	uc001swi.2	-	9	1808	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	PTPRR_uc001swh.2_Missense_Mutation_p.T220M|PTPRR_uc009zrs.3_Missense_Mutation_p.T259M|PTPRR_uc010stq.2_Missense_Mutation_p.T353M|PTPRR_uc010str.1_Missense_Mutation_p.T314M	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	465	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGGCCCTGCGTGGCAATGAA	0.433												
CHD8	57680	broad.mit.edu	37	14	21897194	21897194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr14:21897194G>A	uc001war.2	-	1	1209	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	CHD8_uc001was.2_Nonsense_Mutation_p.Q103*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	382	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCATTATCTGAGCCTGCTGT	0.517												
GOLGA8IP	283796	broad.mit.edu	37	15	23261850	23261850	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:23261850C>A	uc001yvh.1	+	10	1261	c.719C>A	c.(718-720)gCg>gAg	p.A240E	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.									p.A321E(2)		endometrium(1)|lung(2)|prostate(1)	4						GTGGCAGGAGCGCTCCAGGCC	0.587												
EPB42	2038	broad.mit.edu	37	15	43499515	43499515	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:43499515C>T	uc001zrb.4	-	8	1590	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E	EPB42_uc001zqz.4_Silent_p.E67E|EPB42_uc001zra.4_Silent_p.E400E|EPB42_uc010udm.2_Silent_p.E322E	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	400					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGTCCCATCCTCACAGCACT	0.552												
CILP	8483	broad.mit.edu	37	15	65489544	65489544	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:65489544A>G	uc002aon.2	-	8	3261	c.3080T>C	c.(3079-3081)gTc>gCc	p.V1027A		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1027					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGGGATGACCTTCACCAG	0.592												
FAM219B	57184	broad.mit.edu	37	15	75198690	75198690	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:75198690C>T	uc002azh.4	-	1	552	c.231G>A	c.(229-231)ctG>ctA	p.L77L	FAM219B_uc010bkh.3_5'UTR|FAM219B_uc002azf.3_Silent_p.L77L|FAM219B_uc002azg.2_Silent_p.L77L	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN	Homo sapiens chromosome 15 open reading frame 17 (C15orf17), mRNA.	77							cytochrome-c oxidase activity										CGGCCTTGGCCAGGTCCCGGT	0.657												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
DNAH2	146754	broad.mit.edu	37	17	7643079	7643079	+	Missense_Mutation	SNP	G	G	A	rs145686578		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:7643079G>A	uc002giu.1	+	7	1213	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DNAH2_uc002git.3_Missense_Mutation_p.R482H|DNAH2_uc010vuk.2_Missense_Mutation_p.R400H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R400H(2)|p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACTTCGCCCGCTGGGAAGAT	0.483												
DNAH9	1770	broad.mit.edu	37	17	11650946	11650946	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:11650946C>T	uc002gne.3	+	31	6541	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	DNAH9_uc010coo.3_Missense_Mutation_p.S1452L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2158	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGGCAAGTCACAGGTGCTG	0.562												
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627												
ITGB3	3690	broad.mit.edu	37	17	45376748	45376748	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:45376748C>T	uc002ilj.3	+	10	1785	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	589	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGTACCACGCGTACTGACAC	0.607												
SPAG9	9043	broad.mit.edu	37	17	49062314	49062314	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:49062314C>T	uc002itc.3	-	23	3267	c.3058G>A	c.(3058-3060)Ggc>Agc	p.G1020S	SPAG9_uc002itd.3_Missense_Mutation_p.G1010S|SPAG9_uc002itb.3_Missense_Mutation_p.G1006S|SPAG9_uc002ita.3_Missense_Mutation_p.G863S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1020					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGGGTGCCGTCAGCCAGG	0.458												
CD300LB	124599	broad.mit.edu	37	17	72521999	72521999	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:72521999C>T	uc002jkx.2	-	1	382	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_uc010wqz.1_Silent_p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517												
EVPL	2125	broad.mit.edu	37	17	74005267	74005267	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:74005267G>A	uc010wss.1	-	21	4313	c.4085C>T	c.(4084-4086)gCg>gTg	p.A1362V	EVPL_uc002jqi.2_Missense_Mutation_p.A1340V|EVPL_uc010wst.1_Missense_Mutation_p.A810V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1340	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTCTGGGCCGCCTCCCGCAC	0.672												
ENGASE	64772	broad.mit.edu	37	17	77073797	77073797	+	Silent	SNP	G	G	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:77073797G>T	uc002jwv.3	+	2	275	c.267G>T	c.(265-267)tcG>tcT	p.S89S	ENGASE_uc002jwu.1_Silent_p.S89S|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	89						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACTTGTCTTCGCTGGAGGAGC	0.527												
DENND1C	79958	broad.mit.edu	37	19	6479059	6479059	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:6479059G>A	uc002mfe.3	-	4	277	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P18L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	62	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCGGGGCTGGGGGGCTCCCT	0.632												
MUC16	94025	broad.mit.edu	37	19	9069613	9069613	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:9069613C>T	uc002mkp.3	-	2	18037	c.17833G>A	c.(17833-17835)Gca>Aca	p.A5945T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5947	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGATACTGCGGAATAAAGA	0.512												
SLC5A7	60482	broad.mit.edu	37	2	108604723	108604723	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:108604723C>T	uc002tdv.3	+	1	388	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.R38C|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	38					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.R38G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGCAGAAGAGCGCAGCGAAGC	0.502												
MYO7B	4648	broad.mit.edu	37	2	128366343	128366343	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:128366343C>T	uc002top.3	+	21	2757	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	902						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAAGAAGCGCAGATCCAT	0.652												
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592												
TTN	7273	broad.mit.edu	37	2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179542438C>T	uc021vsy.1	-	142	30694	c.30469G>A	c.(30469-30471)Gaa>Aaa	p.E10157K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11084	Glu-rich.						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)			TATTCTTCTTCGGGAGGAACT	0.453												
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179639038C>T	uc021vsy.1	-	29	7178	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2318	Ig-like 12.						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)			CTGACGTCCACGACGAGATGT	0.403												
DOCK10	55619	broad.mit.edu	37	2	225670162	225670162	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:225670162T>C	uc010fwz.1	-	34	4138	c.3899A>G	c.(3898-3900)aAt>aGt	p.N1300S	DOCK10_uc002vob.2_Missense_Mutation_p.N1294S|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.N154S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1300							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTCTTCTCATTGGTACTTGG	0.423												
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr20:54824818C>T	uc002xxb.2	+	0	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517												
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:10969096C>T	uc002yip.1	-	6	520	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453												
TSPEAR	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:45948429C>T	uc002zfe.1	-	5	894	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_uc010gpv.1_Silent_p.P208P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	276					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577												
MYO18B	84700	broad.mit.edu	37	22	26228907	26228907	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:26228907C>A	uc003abz.1	+	15	3253	c.3003C>A	c.(3001-3003)gaC>gaA	p.D1001E	MYO18B_uc003aca.1_Missense_Mutation_p.D882E|MYO18B_uc010guy.1_Missense_Mutation_p.D882E|MYO18B_uc010guz.1_Missense_Mutation_p.D882E|MYO18B_uc011aka.1_Missense_Mutation_p.D155E|MYO18B_uc011akb.1_Missense_Mutation_p.D514E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1001	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGTTTGACCTCCCGGACC	0.507												
KCNJ4	3761	broad.mit.edu	37	22	38823844	38823844	+	Silent	SNP	G	G	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:38823844G>C	uc003avs.1	-	1	391	c.294C>G	c.(292-294)ggC>ggG	p.G98G	KCNJ4_uc003avt.1_Silent_p.G98G|KCNJ4_uc021wpp.1_Silent_p.G98G	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	98	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ccgccgccgggccccccgccg	0.682												
UBA7	7318	broad.mit.edu	37	3	49849871	49849871	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:49849871C>T	uc003cxr.3	-	5	835	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	222	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCACAGTCGTTGAGCTCA	0.567												
EPHB1	2047	broad.mit.edu	37	3	134851749	134851749	+	Silent	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:134851749C>A	uc003eqt.3	+	4	1530	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597												
HTR3E	285242	broad.mit.edu	37	3	183824082	183824082	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:183824082G>A	uc010hxr.3	+	5	1364	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A	HTR3E_uc010hxq.3_Silent_p.A364A|HTR3E_uc003fml.4_Silent_p.A349A|HTR3E_uc003fmm.3_Silent_p.A379A|HTR3E_uc003fmn.3_Silent_p.A364A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	364						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.A379A(1)|p.T390N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCCCACTGCGCCCCAGAAGG	0.667												
DGKG	1608	broad.mit.edu	37	3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:185975697G>A	uc003fqa.3	-	16	1993	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	486	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463												
BDH1	622	broad.mit.edu	37	3	197238913	197238913	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:197238913C>T	uc003fxr.3	-	7	1287	c.885G>A	c.(883-885)acG>acA	p.T295T	BDH1_uc003fxs.3_Silent_p.T295T|BDH1_uc003fxu.3_Silent_p.T295T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGGGGACGTGTCTGTGG	0.577												
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr4:71472354G>A	uc003hfl.3	+	12	1352	c.1251G>A	c.(1249-1251)acG>acA	p.T417T		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	417					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512												
IRX1	79192	broad.mit.edu	37	5	3600344	3600344	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:3600344G>A	uc003jde.3	+	1	1334	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	428						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAGACAAGGCCTCGGTCCG	0.697												
CMYA5	202333	broad.mit.edu	37	5	79026546	79026546	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:79026546T>C	uc003kgc.3	+	1	2030	c.1958T>C	c.(1957-1959)cTc>cCc	p.L653P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	653						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGCTCTCTCTCACCATCC	0.458												
ABLIM3	22885	broad.mit.edu	37	5	148617052	148617052	+	Silent	SNP	G	G	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:148617052G>T	uc003lpy.2	+	10	1181	c.930G>T	c.(928-930)gcG>gcT	p.A310A	ABLIM3_uc003lpz.1_Silent_p.A310A|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.A310A|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	310					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCTGGCGGCTCTCCCCA	0.468												
SLIT3	6586	broad.mit.edu	37	5	168620553	168620553	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:168620553G>A	uc010jjg.3	-	4	762	c.342_splice	c.e4-1	p.L114_splice	SLIT3_uc003mab.3_Splice_Site_p.L114_splice|SLIT3_uc010jji.2_Splice_Site_p.L114_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	114					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R115C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTCAGGCGCCTAAAGAGG	0.438												
MDC1	9656	broad.mit.edu	37	6	30682871	30682871	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30682871C>T	uc003nrg.4	-	1	522	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.V28M	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	28	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGCTCCACGTTACACCTC	0.458								Other conserved DNA damage response genes				
IER3	8870	broad.mit.edu	37	6	30711832	30711832	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30711832C>T	uc003nrn.3	-	1	384	c.352G>A	c.(352-354)Gca>Aca	p.A118T	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	118					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						GCCAGGGATGCGGCGTTAGGG	0.627												
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome			
PCLO	27445	broad.mit.edu	37	7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:82584801G>A	uc003uhx.2	-	4	5757	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1754					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1822M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423												
DMTF1	9988	broad.mit.edu	37	7	86815172	86815172	+	Silent	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:86815172A>G	uc003uih.3	+	11	1403	c.1077A>G	c.(1075-1077)gaA>gaG	p.E359E	DMTF1_uc003uii.3_Silent_p.E93E|DMTF1_uc003uij.3_Silent_p.E93E|DMTF1_uc011khb.2_Silent_p.E271E|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.E359E|DMTF1_uc003uin.3_Silent_p.E93E	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	359	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCTGATGAAAATGACATTA	0.398												
CNTNAP2	26047	broad.mit.edu	37	7	146997320	146997320	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:146997320C>T	uc003weu.2	+	8	1952	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	479	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGATGAAGCATCAGCAGTT	0.428										HNSCC(39;0.1)		
DOCK8	81704	broad.mit.edu	37	9	404947	404947	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:404947G>A	uc003zgf.2	+	26	3376	c.3264G>A	c.(3262-3264)acG>acA	p.T1088T	DOCK8_uc022bcu.1_Silent_p.T1020T|DOCK8_uc010mgv.3_Silent_p.T988T|DOCK8_uc010mgu.3_Silent_p.T390T|DOCK8_uc010mgw.2_Silent_p.T390T|DOCK8_uc003zgk.2_Silent_p.T546T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1088					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCCAACGCTCATTTCCA	0.418												
ANKS6	203286	broad.mit.edu	37	9	101533299	101533299	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:101533299G>A	uc004ayu.3	-	9	1872	c.1851C>T	c.(1849-1851)agC>agT	p.S617S	ANKS6_uc004ayv.2_Silent_p.S79S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.S316S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	617	Ser-rich.							p.P616S(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTCTGGGGAGGCTTGGAAATT	0.582												
BRD3	8019	broad.mit.edu	37	9	136918434	136918434	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:136918434C>T	uc004cew.3	-	1	354	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	BRD3_uc004cex.2_Missense_Mutation_p.A56T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	56	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGAACTGGTGT	0.617			T	C15orf55	lethal midline carcinoma of young people							
FMR1NB	158521	broad.mit.edu	37	X	147088330	147088330	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chrX:147088330C>T	uc004fcm.3	+	2	580	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	169	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGACCACGAGCTTCAAA	0.368