Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	uc021ozn.1	+	0	141	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_uc009wnu.2_Missense_Mutation_p.E47D|SPRR1A_uc001faw.3_Missense_Mutation_p.E47D	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642000													21	250					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:207435477C>T	uc002vbq.3	+	15	1731	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	503	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418000													7	51					0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	uc003jmj.4	-	35	4365	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E847G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1292							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAGGATTGGTTCCTTCATGAG	0.488000													7	60					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10432357G>A	uc010coi.3	-	26	3522	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1132W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602000													52	107					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	uc022asn.1	+	7	1130	c.999C>T	c.(997-999)ctC>ctT	p.L333L	INTS10_uc003wzj.3_Silent_p.L333L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	333					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398000													3	52					0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116975	9116975	+	RNA	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:9116975C>T	uc010rbv.1	+	0		c.1066C>T								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GAACATCAGCCGGCTCCAGGC	0.537000													5	12					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	uc010qzw.2	-	0	745	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488000													37	51					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:128134734G>A	uc011ebt.2	-	3	1201	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	THEMIS_uc010kfa.3_Missense_Mutation_p.T254M|THEMIS_uc021zfa.1_Missense_Mutation_p.T351M|THEMIS_uc010kfb.3_Missense_Mutation_p.T316M	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	351	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473000													16	144					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401455	1401455	+	Splice_Site	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:1401455T>G	uc010nct.2	+	3	296	c.-26_splice	c.e3+2		CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_5'Flank|CSF2RA_uc004cpr.2_5'Flank	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.							extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557000													18	34					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:44579425C>T	uc003tlb.3	-	1	627	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_uc011kbw.2_Missense_Mutation_p.V191M|NPC1L1_uc003tlc.3_Missense_Mutation_p.V191M|NPC1L1_uc003tld.3_Missense_Mutation_p.V191M	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	191					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612000													5	98					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995249	11995249	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:11995249C>T	uc003wvc.1	-	0	1021	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	341					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTTCTTGAGCTTTGACATAA	0.488000													3	33					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	rs144914036	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:56343598G>A	uc002ivt.3	+	10	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_uc010wns.2_Missense_Mutation_p.R476H|LPO_uc010dcp.3_Missense_Mutation_p.R452H|LPO_uc010dcq.3_Missense_Mutation_p.R206H|LPO_uc010dcr.3_Missense_Mutation_p.R98H	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	535					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R535H(2)|p.R535C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547000													6	70					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	uc001vmd.4	-	4	695	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_uc010afk.3_Silent_p.G192G|ABCC4_uc001vme.2_Silent_p.G192G|ABCC4_uc010tih.1_Silent_p.G117G|ABCC4_uc001vmf.2_Silent_p.G149G|ABCC4_uc010afl.1_Silent_p.G149G|ABCC4_uc010afm.1_Silent_p.G205G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	192	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTATCTGGCCTGTGGTTG	0.438000													6	42					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:31544556G>A	uc003nui.3	+	2	414	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TNF_uc003nuj.3_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	82					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	201					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	uc021qfs.1	+	5	3170	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	C11orf41_uc001mun.1_Missense_Mutation_p.V1022I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1016						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CAACGGCACCGTCGCCAGCAG	0.567000													15	219					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	uc002oij.1	-	2	1050	c.915T>C	c.(913-915)gtT>gtC	p.V305V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.V222V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	305	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697000													4	39					0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24380910	24380910	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:24380910C>T	uc011mjx.2	+	0	33	c.33C>T	c.(31-33)cgC>cgT	p.R11R		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CTCTGGATCGCGCAGAGAATA	0.458000													33	25					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	uc003ulg.3	+	16	4626	c.4401A>G	c.(4399-4401)ggA>ggG	p.G1467G	AKAP9_uc003ule.2_Silent_p.G1479G|AKAP9_uc003ulf.3_Silent_p.G1467G|AKAP9_uc003uli.3_Silent_p.G1092G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1479					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318000			T	BRAF	papillary thyroid								4	63					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026830	37026830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:37026830C>T	uc004ddl.2	+	0	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547000													22	77					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	uc010axc.1	-	6	14484	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_uc021sen.1_Missense_Mutation_p.E185D|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E4688D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4788						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498000													36	80					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	uc001ayc.1	-	2	675	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	180					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667000													4	100					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	uc003ytw.3	+	19	4217	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_uc010mdw.3_Silent_p.G151G	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1392					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557000													27	43					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75367846	75367846	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:75367846G>A	uc001xqv.2	+	13	1200	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_uc001xqu.2_Silent_p.S291S|DLST_uc001xqs.3_Silent_p.S196S|DLST_uc001xqt.2_Silent_p.S295S|DLST_uc010tuw.1_Silent_p.S293S	NM_001933	NP_001924	P36957	ODO2_HUMAN	Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488000													9	118					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	uc003zds.1	-	5	1581	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_uc011llk.1_Silent_p.A342A|ARHGAP39_uc003zdt.1_Silent_p.A342A	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	342	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706000													7	63					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	uc011dxu.1	-	5	1474	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_uc003peq.3_Silent_p.S312S|EYS_uc003per.1_Silent_p.S312S|EYS_uc021zbn.1_Silent_p.S312S	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	312					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378000													10	131					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:62739197C>T	uc001dah.4	-	2	1956	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	527										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602000													28	74					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:47108803G>A	uc002ldv.3	+	6	1360	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_uc010xdh.2_Missense_Mutation_p.V296I	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	370	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.Y369H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448000													9	91					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:4529255G>A	uc002mas.3	-	4	403	c.350C>T	c.(349-351)tCa>tTa	p.S117L	PLIN5_uc002mat.1_3'UTR	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	117						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667000													9	137					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666077	157666077	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:157666077G>A	uc001fqz.4	-	6	1177	c.885C>T	c.(883-885)acC>acT	p.T295T	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.T21T|FCRL3_uc001frb.3_Silent_p.T295T|FCRL3_uc001frc.1_Silent_p.T295T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	295	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.T295T(2)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517000													16	157					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	uc003cnq.3	+	3	891	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	ZNF35_uc003cnr.3_Missense_Mutation_p.C64R	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	224					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428000													7	131					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:79792152C>T	uc003hlk.3	+	10	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Nonsense_Mutation_p.Q483*|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507000													6	62					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:33122333G>A	uc002ntn.1	-	12	1340	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	395					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S395L(2)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478000													23	104					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:229890607C>T	uc002vpr.4	-	2	532	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PID1_uc002vps.4_Missense_Mutation_p.R163H|PID1_uc002vpt.4_Missense_Mutation_p.R132H|PID1_uc002vpu.4_Missense_Mutation_p.R83H	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	165	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582000													6	145					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:52255490G>A	uc003ddb.3	-	4	3343	c.3133C>T	c.(3133-3135)Cgc>Tgc	p.R1045C	TLR9_uc003dda.2_Missense_Mutation_p.R948C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	948					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAGCTGGCGCGCAAGAGACCA	0.662000													4	110					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:8609872C>A	uc002knp.3	+	0	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G	RAB12_uc002kno.1_Silent_p.G145G	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(2)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													5	29					0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	uc001cmm.3	-	0	120	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	24						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572000													26	215					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	uc001mqw.3	-	2	919	c.646G>A	c.(646-648)Gga>Aga	p.G216R	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.G189R|MUC15_uc001mqy.3_Missense_Mutation_p.G216R	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	189						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413000													7	107					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	uc003yeb.4	-	3	884	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	201					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCTCCCTCTCCATCAAAGGG	0.443000													36	75					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	uc003ydt.3	+	8	1096	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_uc010mai.3_Missense_Mutation_p.N48K	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	272					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413000													30	55					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:123369870G>A	uc003pzi.1	+	3	1537	c.668G>A	c.(667-669)cGg>cAg	p.R223Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000													4	81					0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90160995	90160995	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:90160995C>T	uc002fqq.3	+	2	225	c.225C>T	c.(223-225)tcC>tcT	p.S75S	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.S75S(1)									CCATGGACTCCGTGCGCTCGG	0.692000													20	145					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	uc011kua.2	+	0	607	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577000													41	356					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925416	4925416	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrY:4925416G>A	uc004fqo.3	+	0	1286	c.552G>A	c.(550-552)tcG>tcA	p.S184S	PCDH11Y_uc010nwg.1_Silent_p.S173S|PCDH11Y_uc004fql.1_Silent_p.S173S|PCDH11Y_uc004fqm.1_Silent_p.S173S|PCDH11Y_uc004fqn.1_Silent_p.S184S	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363000													5	45					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	uc003hmm.1	-	2	763	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_uc003hml.1_Non-coding_Transcript|HNRNPD_uc003hmn.1_Nonsense_Mutation_p.E130*|HNRNPD_uc003hmo.1_Nonsense_Mutation_p.E149*|HNRNPD_uc003hmp.1_Nonsense_Mutation_p.E130*|HNRNPD_uc010ijr.1_Nonsense_Mutation_p.E130*|HNRNPD_uc011cci.1_Intron	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) (HNRNPD), transcript variant 1, mRNA.	149	RRM 1.				RNA catabolic process|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358000													11	96					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:38962717G>A	uc021wvy.1	-	5	941	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	248					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCACAGAGCGTAGCAAGGCC	0.537000													8	221					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	uc002cye.2	+	3	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	86	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622000													18	35					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545901	28545901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:28545901G>A	uc002hey.4	-	3	936	c.392C>T	c.(391-393)cCg>cTg	p.P131L		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	131					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTAAAAGAGCGGGATTCCCCC	0.502000													9	198					0	0	1	0	0
FAM40A	85369	broad.mit.edu	37	1	110592992	110592992	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:110592992C>T	uc001dza.1	+	17	1936	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	FAM40A_uc001dyz.1_Silent_p.C544C|FAM40A_uc009wfp.1_Silent_p.C463C	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	639						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		ACCCTCACTGCGTGGTGCATG	0.612000													6	60					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:136340607G>T	uc004cee.3	-	4	784	c.689C>A	c.(688-690)gCc>gAc	p.A230D	SLC2A6_uc004cef.3_Missense_Mutation_p.A230D|SLC2A6_uc004ceg.3_Missense_Mutation_p.A207D|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	230						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	p.A230D(6)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCCGCAGGGCCTCTTCGTC	0.667000													7	37					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47095220	47095220	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:47095220G>A	uc003bia.3	-	7	1040	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_uc010hae.3_Silent_p.Y113Y	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	311					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552000													17	127					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	uc002uch.2	-	7	1986	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_uc002uci.3_Missense_Mutation_p.G579V	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	586					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G586E(2)|p.I585I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCCAACCATCCGATTTTGTC	0.433000													5	136					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	uc002pdv.2	-	2	418	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	124						nucleus	RNA binding	p.T124M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527000													61	144					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	uc010ljy.1	-	3	2690	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	887					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363000													5	96					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:158746588C>T	uc010pir.2	-	0	838	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280I(2)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423000													8	117					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	uc001mbm.2	-	7	1415	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	371	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403000													7	210					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:27169828G>A	uc002rhu.4	+	12	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_uc002rhv.4_Missense_Mutation_p.A554T|DPYSL5_uc021vev.1_Missense_Mutation_p.A554T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	554					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617000													10	37					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	uc001mra.2	-	11	1665	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	451					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						AATGGCCACCCAAAATGACAA	0.448000													3	35					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:29644362G>T	uc001bru.3	+	25	3775	c.3646G>T	c.(3646-3648)Gac>Tac	p.D1216Y	PTPRU_uc009vtq.3_Missense_Mutation_p.D1212Y|PTPRU_uc009vtr.3_Missense_Mutation_p.D1203Y|PTPRU_uc001brw.3_Missense_Mutation_p.D1206Y|PTPRU_uc001brx.3_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1216	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637000													17	90					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	uc002rdc.3	-	1	498	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	65					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612000													5	57					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:13423557C>T	uc002mwy.3	-	11	1830	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_uc010dzc.2_Missense_Mutation_p.E58K|CACNA1A_uc010xnd.2_Missense_Mutation_p.E532K|CACNA1A_uc021ups.1_Missense_Mutation_p.E532K|CACNA1A_uc010xne.2_Missense_Mutation_p.E532K|CACNA1A_uc010dze.2_Missense_Mutation_p.E532K|CACNA1A_uc021upt.1_Missense_Mutation_p.E533K	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATAAACATTTCGGACATAAAG	0.458000													4	64					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133601	167133601	+	Silent	SNP	G	G	A	rs142070305	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:167133601G>A	uc010fpl.3	-	15	3074	c.2733C>T	c.(2731-2733)cgC>cgT	p.R911R	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	922						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R911C(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACACAGCACGCGGAACACAA	0.483000													28	276					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	673714	673714	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:673714G>A	uc003gav.3	+	3	304	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	MYL5_uc003gat.3_Non-coding_Transcript|MYL5_uc003gau.3_Non-coding_Transcript	NM_002477	NP_002468	Q02045	MYL5_HUMAN	Homo sapiens myosin, light chain 5, regulatory (MYL5), mRNA.	67					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607000													37	58					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	uc002esl.3	-	19	3208	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P	FHOD1_uc010ced.3_Silent_p.P839P	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1032					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597000													53	103					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:46611177G>A	uc003bhb.1	+	2	439	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_uc003bgw.1_Missense_Mutation_p.G106R|PPARA_uc003bgx.1_Missense_Mutation_p.G106R|PPARA_uc010hab.1_Missense_Mutation_p.G106R|PPARA_uc003bha.3_Missense_Mutation_p.G106R|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	106					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TAGAATCTGCGGGGACAAGGC	0.592000													4	52					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:47776029C>T	uc003ozc.3	+	4	924	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_uc003ozd.3_Missense_Mutation_p.A134V	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	299					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453000													58	129					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	uc001ffv.3	-	1	751	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_uc001ffw.3_Missense_Mutation_p.R177H|SHC1_uc001ffx.3_Missense_Mutation_p.R67H|SHC1_uc001ffy.3_Missense_Mutation_p.R67H|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	177	PID.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602000													6	35					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	uc003gde.4	+	6	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	377																	TACTGAGAAAATACAAGGAGC	0.627000													16	21					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10216500G>A	uc002gmk.1	-	29	4246	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000													9	274					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	uc010qlx.1	-	11	1752	c.1702G>T	c.(1702-1704)Gac>Tac	p.D568Y	ANXA11_uc001kbq.1_Missense_Mutation_p.D468Y|ANXA11_uc001kbr.1_Missense_Mutation_p.D468Y|ANXA11_uc001kbs.1_Missense_Mutation_p.D468Y|ANXA11_uc001kbt.1_Missense_Mutation_p.D468Y|ANXA11_uc010qly.1_Missense_Mutation_p.D435Y|ANXA11_uc001kbu.1_Missense_Mutation_p.D468Y	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	468					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577000													7	93					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	uc001fwe.2	-	1	157	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.M29I|SLAMF6_uc010pjh.2_Intron|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Intron	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	29						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458000													8	283					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	uc003ego.3	-	7	942	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_uc011bjw.2_Silent_p.I220I|MYLK_uc003egp.3_Silent_p.I220I|MYLK_uc003egq.3_Silent_p.I220I|MYLK_uc003egr.3_Silent_p.I220I|MYLK_uc003egs.3_Silent_p.I44I|MYLK_uc010hrs.1_Silent_p.I220I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	220	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547000													9	218					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													2	4	---	---	---	---					
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	-	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	uc010otf.2	-	18	2304	c.2294delG	c.(2293-2295)ggtfs	p.G765fs	EVI5_uc001dox.3_Frame_Shift_Del_p.G754fs	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433													36	79	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68938119	68938119	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:68938119delT	uc003hdt.1	-	4	485	c.436delA	c.(436-438)attfs	p.I146fs	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	146	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313													20	43	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	-	-			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													3	4	---	---	---	---					
