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
CDCP2	200008	broad.mit.edu	37	1	54605749	54605749	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:54605749C>A	uc001cwv.1	-	3	1642	c.794G>T	c.(793-795)cGg>cTg	p.R265L		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	265	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAAGTTGCCCCGCATGGCCAT	0.602												
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:145324371T>C	uc021oul.1	+	27	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1189										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498												
GPR137B	7107	broad.mit.edu	37	1	236343286	236343286	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:236343286C>T	uc001hxq.3	+	3	886	c.795C>T	c.(793-795)agC>agT	p.S265S		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	265						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGAACAAGAGCGTCCATTCCT	0.527												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
DTX4	23220	broad.mit.edu	37	11	58949764	58949764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:58949764C>T	uc001nns.2	+	1	1021	c.764C>T	c.(763-765)tCg>tTg	p.S255L	DTX4_uc001nnr.2_Missense_Mutation_p.S149L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	255					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCGCCCCATCGCAGGTGATC	0.657												
MMP13	4322	broad.mit.edu	37	11	102826186	102826186	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:102826186C>T	uc001phl.3	-	1	186	c.157G>A	c.(157-159)Gcg>Acg	p.A53T		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	53					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.A53A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGGATTCCCGCGAGATTTGTA	0.458												
IL23A	51561	broad.mit.edu	37	12	56733735	56733735	+	Silent	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:56733735T>C	uc001sla.3	+	3	583	c.417T>C	c.(415-417)ggT>ggC	p.G139G		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	139					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGCCTGAGGGTCACCACTGGG	0.572												
CUX2	23316	broad.mit.edu	37	12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:111785603G>A	uc001tsa.2	+	21	4089	c.3935G>A	c.(3934-3936)gGc>gAc	p.G1312D		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGAGGCAGGCAGCCAGCCC	0.612												
FAM124A	220108	broad.mit.edu	37	13	51825704	51825704	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr13:51825704C>T	uc001vff.2	+	3	477	c.309C>T	c.(307-309)aaC>aaT	p.N103N	FAM124A_uc001vfe.3_Silent_p.N67N|FAM124A_uc001vfg.2_Silent_p.N67N	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	67										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCGACAACGTCCTGGCGT	0.687												
MAX	4149	broad.mit.edu	37	14	65569050	65569050	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:65569050T>A	uc001xif.1	-	0	178	c.8A>T	c.(7-9)gAt>gTt	p.D3V	MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.3_Missense_Mutation_p.D3V	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	3					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCATCGTTATCGCTCATTTC	0.667												
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:77942269C>T	uc001xtz.3	-	6	1459	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.R374H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	462	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672												
ATG2B	55102	broad.mit.edu	37	14	96752258	96752258	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:96752258A>C	uc001yfi.3	-	41	6436	c.6071T>G	c.(6070-6072)gTg>gGg	p.V2024G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	2024										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCACCAGTCACCCCTCTGCT	0.582												
C15orf2	23742	broad.mit.edu	37	15	24921107	24921107	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:24921107C>T	uc001ywo.3	+	0	567	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	31					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGTCCCGGGACGCCTCCCCGC	0.697												
OCA2	4948	broad.mit.edu	37	15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:28273201G>A	uc001zbh.4	-	3	441	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	OCA2_uc010ayv.3_Missense_Mutation_p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	111					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous Albinism			
WDR76	79968	broad.mit.edu	37	15	44150913	44150913	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:44150913G>A	uc001zti.2	+	10	1573	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	WDR76_uc021skg.1_Missense_Mutation_p.S421N	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	485										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCAGGAGAAGTCAGCCTTTG	0.403												
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	rs151217691		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:79067005T>C	uc002bej.4	-	11	2048	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K613E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642												
SSTR5	6755	broad.mit.edu	37	16	1129345	1129345	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1129345G>A	uc021taf.1	+	1	548	c.477G>A	c.(475-477)gcG>gcA	p.A159A	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A159A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	159					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAAGCTGGCGAGCGCCGCGG	0.706												
MAPK8IP3	23162	broad.mit.edu	37	16	1814345	1814345	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1814345A>G	uc010uvl.2	+	18	2285	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.N721S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.N711S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.N715S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	721					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAGGCCCAATGAGGACGAC	0.706												
ADAMTS18	170692	broad.mit.edu	37	16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	rs142855321		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:77356301C>T	uc002ffc.4	-	13	2514	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S	ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	699	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G699S(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACTTTGCCGGACATTGCA	0.403												
MYO15A	51168	broad.mit.edu	37	17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18022706G>A	uc021trm.1	+	0	811	c.592G>A	c.(592-594)Gcg>Acg	p.A198T	MYO15A_uc021trl.1_Missense_Mutation_p.A198T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCATCTACGCGTCAGGCGA	0.701												
FAM83G	644815	broad.mit.edu	37	17	18891569	18891569	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18891569C>T	uc002guw.3	-	2	848	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	227										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCTTGAGGTGCCCCAGGTGCA	0.577												
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:40370236delG	uc002hzh.3	-	8	1271	c.1102delC	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577												
ACE	1636	broad.mit.edu	37	17	61560507	61560507	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:61560507G>A	uc002jau.2	+	8	1494	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R304H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	487	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCCTTCCCGCTACAACTTC	0.587												
SOX9	6662	broad.mit.edu	37	17	70117873	70117873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:70117873T>C	uc002jiw.3	+	0	713	c.341T>C	c.(340-342)gTg>gCg	p.V114A	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	114					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCTTCATGGTGTGGGCGCAG	0.657												
CSNK1D	1453	broad.mit.edu	37	17	80213441	80213441	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:80213441G>A	uc002kej.3	-	2	537	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CSNK1D_uc002kei.3_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	67	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCATCTGATGGTGGGGATGCC	0.572												
ANKRD30B	374860	broad.mit.edu	37	18	14803789	14803789	+	Silent	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:14803789A>G	uc010dlo.2	+	23	2430	c.2250A>G	c.(2248-2250)caA>caG	p.Q750Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.Q750Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	835										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTACACATCAAAAAGAATTCG	0.323												
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:20572852_20572853insA	uc002kua.3	+	10	1185_1186	c.1062_1063insA	c.(1060-1065)gggaaafs	p.G354fs	RBBP8_uc002ktw.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	354					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K355E(3)|p.G354G(3)|p.K357fs*3(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination				
PIGN	23556	broad.mit.edu	37	18	59757728	59757728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:59757728C>T	uc021ulb.1	-	20	2296	c.2264G>A	c.(2263-2265)gGt>gAt	p.G755D	PIGN_uc021ulc.1_Missense_Mutation_p.G381D|PIGN_uc021uld.1_Missense_Mutation_p.G381D	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	755					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAGCAAACACCAGATTGTTG	0.343												
KCNG2	26251	broad.mit.edu	37	18	77623839	77623839	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:77623839G>A	uc010xfl.2	+	0	172	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	58					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTGCGCGTGTGTGACGA	0.741												
C19orf35	374872	broad.mit.edu	37	19	2278816	2278816	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:2278816C>A	uc002lvn.2	-	2	479	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	127										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGATCGCGGAGGGAG	0.692												
CLEC4M	10332	broad.mit.edu	37	19	7833851	7833851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:7833851G>A	uc010dvt.3	+	6	1295	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CLEC4M_uc002mih.3_Missense_Mutation_p.A370T|CLEC4M_uc010xjw.2_Missense_Mutation_p.A326T|CLEC4M_uc010dvs.3_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.A257T	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	393					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAAAAGCCCGCAGCCTGCTT	0.498												
FBN3	84467	broad.mit.edu	37	19	8148157	8148157	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:8148157G>T	uc002mjf.3	-	55	7204	c.7187C>A	c.(7186-7188)cCg>cAg	p.P2396Q	FBN3_uc002mje.3_Missense_Mutation_p.P235Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2396	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTAGCATCCGGTGTGTACCC	0.602												
MUC16	94025	broad.mit.edu	37	19	9056233	9056233	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9056233C>T	uc002mkp.3	-	2	31417	c.31213G>A	c.(31213-31215)Gtt>Att	p.V10405I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10407	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						CCCAGCTCAACGCTCTCTGTC	0.483												
OLFM2	93145	broad.mit.edu	37	19	9965148	9965148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9965148G>A	uc002mmp.3	-	5	1107	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	360	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGTCCCAGGACCGCATGAC	0.657												
CYP4F11	57834	broad.mit.edu	37	19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:16025652C>T	uc002nbu.2	-	9	1205	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	390					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592												
ZNF302	55900	broad.mit.edu	37	19	35175342	35175342	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:35175342C>G	uc002nvr.1	+	5	795	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGTCTACTCTTTCTGAACC	0.274												
SHKBP1	92799	broad.mit.edu	37	19	41083170	41083170	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:41083170C>A	uc002oob.3	+	1	169	c.120C>A	c.(118-120)atC>atA	p.I40I	SHKBP1_uc002ooc.3_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	40	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCTGGATCCCAGACTCCT	0.617												
LILRB2	10288	broad.mit.edu	37	19	54782692	54782692	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:54782692G>A	uc002qfb.3	-	5	1196	c.930C>T	c.(928-930)agC>agT	p.S310S	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.S310S|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.S310S|LILRB2_uc010yet.2_Silent_p.S194S|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGGGTCGCTGGGGGCCG	0.642												
SBK2	646643	broad.mit.edu	37	19	56047476	56047476	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:56047476G>A	uc010ygc.2	-	1	201	c.186C>T	c.(184-186)taC>taT	p.Y62Y		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	62	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACTTCCTCGTAGAGCTCGT	0.652												
IHH	3549	broad.mit.edu	37	2	219920384	219920384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr2:219920384C>T	uc002vjo.2	-	2	830	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	261					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGAGTCTCGATGACCTGG	0.647												
ADAM33	80332	broad.mit.edu	37	20	3655285	3655285	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:3655285G>A	uc002wit.3	-	5	553	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	156					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGGAGCCCCGGGGTGGCCAG	0.607												
CHGB	1114	broad.mit.edu	37	20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	rs148235020		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:5904558G>A	uc002wmg.3	+	3	2074	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	CHGB_uc010zqz.2_Missense_Mutation_p.A273T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	590						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498												
PAK7	57144	broad.mit.edu	37	20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:9543605C>T	uc002wnl.2	-	6	2094	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	517	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGAGCTCATCGCCGACAAGG	0.478												
COL20A1	57642	broad.mit.edu	37	20	61959711	61959711	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:61959711C>T	uc011aau.2	+	33	3742	c.3642C>T	c.(3640-3642)caC>caT	p.H1214H	COL20A1_uc011aav.2_Silent_p.H1041H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1214					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACTCCTTCCACGAGAACACCA	0.672												
CLDN14	23562	broad.mit.edu	37	21	37833779	37833779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr21:37833779G>A	uc021wja.1	-	0	215	c.215C>T	c.(214-216)gCg>gTg	p.A72V	CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvk.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	72					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGGGGCAGCGCCAGCAGGGA	0.632												
YWHAH	7533	broad.mit.edu	37	22	32352631	32352631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr22:32352631A>G	uc003alz.3	+	1	834	c.593A>G	c.(592-594)aAa>aGa	p.K198R	YWHAH_uc003ama.3_Missense_Mutation_p.K128R|YWHAH_uc010gwm.3_Missense_Mutation_p.K185R	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	198					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CTCTTAGCCAAACAAGCCTTC	0.537												
PCYT1A	5130	broad.mit.edu	37	3	195965686	195965686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr3:195965686C>T	uc003fwg.3	-	9	1150	c.977G>A	c.(976-978)cGc>cAc	p.R326H	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Missense_Mutation_p.R326H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	326	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GGAGCGCTCGCGAGTAGGGCT	0.607												
TLR10	81793	broad.mit.edu	37	4	38777038	38777038	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:38777038G>T	uc003gtj.3	-	3	812	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TLR10_uc021xnk.1_Missense_Mutation_p.N44K|TLR10_uc003gti.3_Missense_Mutation_p.N58K|TLR10_uc021xnl.1_Missense_Mutation_p.N58K|TLR10_uc003gtk.3_Missense_Mutation_p.N58K|TLR10_uc021xnm.1_Missense_Mutation_p.N58K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	58					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAAAAGGAGGTTATAGGATA	0.428												
PDS5A	23244	broad.mit.edu	37	4	39839671	39839671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:39839671C>T	uc003guv.4	-	31	4355	c.3815G>A	c.(3814-3816)cGt>cAt	p.R1272H		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1272					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTGGGTCGACGTCCTCTCCT	0.473												
DCHS2	54798	broad.mit.edu	37	4	155157533	155157533	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:155157533G>A	uc003inw.2	-	24	6906	c.6906C>T	c.(6904-6906)gtC>gtT	p.V2302V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2302	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGACACTGACAAACACAA	0.373												
ANP32C	23520	broad.mit.edu	37	4	165118560	165118560	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:165118560T>C	uc011cjk.2	-	0	304	c.304A>G	c.(304-306)Ata>Gta	p.I102V	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	102										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AGTGGCTCTATTGTGCTGAGG	0.428												
PLEKHG4B	153478	broad.mit.edu	37	5	162950	162950	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:162950C>T	uc003jak.2	+	10	1745	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	565					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGCCTTCCCCGGGGCAGGTG	0.667												
KLHL3	26249	broad.mit.edu	37	5	137045486	137045486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:137045486C>T	uc010jek.3	-	2	638	c.194G>A	c.(193-195)cGt>cAt	p.R65H	MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	65	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.R65H(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547												
PCDHAC2	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677												
PCDHGC5	56111	broad.mit.edu	37	5	140736994	140736994	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140736994G>A	uc003ljq.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGACGGGGT	0.617												
SYNGAP1	8831	broad.mit.edu	37	6	33405652	33405652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:33405652C>T	uc011dri.2	+	7	1165	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R36W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	324	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCGTGCCCTGCGGCTGCATCT	0.627												
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567												
TFAP2D	83741	broad.mit.edu	37	6	50696975	50696975	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:50696975C>T	uc003paf.3	+	4	1345	c.833C>T	c.(832-834)gCa>gTa	p.A278V	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	278							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACCAGCAGGAAGACGG	0.423												
SIM1	6492	broad.mit.edu	37	6	100901684	100901684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:100901684C>T	uc003pqj.4	-	1	679	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SIM1_uc021zdg.1_Missense_Mutation_p.S71N|SIM1_uc010kcu.3_Missense_Mutation_p.S71N	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	71					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGGGGGCTGGTCCGACT	0.612												
ZBTB24	9841	broad.mit.edu	37	6	109787239	109787239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:109787239C>T	uc003ptl.1	-	6	2077	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.V637M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAGTGATCACGTGCACTGGC	0.458												
PARK2	5071	broad.mit.edu	37	6	161771139	161771139	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:161771139C>T	uc021zhu.1	-	12	1622	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.D273N|PARK2_uc003qtx.4_Missense_Mutation_p.D464N|PARK2_uc021zhs.1_Missense_Mutation_p.D386N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.D436N|PARK2_uc003qtz.4_Missense_Mutation_p.D315N|PARK2_uc021zhv.1_Missense_Mutation_p.D385N|PARK2_uc021zhw.1_Missense_Mutation_p.D273N|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.D414N|PARK2_uc011egf.2_Missense_Mutation_p.D138N	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	464					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTACACGTCGAACCAGTGG	0.592												
PMS2	5395	broad.mit.edu	37	7	6027045	6027045	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:6027045T>C	uc003spl.3	-	10	1438	c.1351A>G	c.(1351-1353)Agg>Ggg	p.R451G	PMS2_uc003spj.3_Missense_Mutation_p.R345G|PMS2_uc003spk.3_Missense_Mutation_p.R316G|PMS2_uc011jwl.2_Missense_Mutation_p.R316G|PMS2_uc010ktg.3_Missense_Mutation_p.R140G|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R451G	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	451					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCATACCCCTTTTCTGTCCT	0.532			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
MLXIPL	51085	broad.mit.edu	37	7	73010591	73010591	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:73010591C>A	uc003tyn.1	-	12	1998	c.1950G>T	c.(1948-1950)cgG>cgT	p.R650R	MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.R556R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	650					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGTGATACGCCGGTTCTCGG	0.627												
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:82595385delT	uc003uhx.2	-	3	4008	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						AGGGGTTGGCTTTTTTTCTTC	0.383												
SEMA3E	9723	broad.mit.edu	37	7	83047753	83047753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:83047753C>T	uc003uhy.2	-	4	1124	c.503G>A	c.(502-504)gGc>gAc	p.G168D	SEMA3E_uc022agy.1_Missense_Mutation_p.G108D	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	168	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGACATCTGCCCCTTCCTCT	0.403												
SLC26A5	375611	broad.mit.edu	37	7	103032068	103032068	+	Splice_Site	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:103032068C>T	uc003vbz.3	-	11	1495	c.1233_splice	c.e11+1	p.Q411_splice	SLC26A5_uc003vbt.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Splice_Site|SLC26A5_uc003vby.3_Splice_Site|SLC26A5_uc010liy.3_Splice_Site|SLC26A5_uc003vbx.3_Splice_Site_p.Q411_splice	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	411					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TATGTACATACCTGTGTCTTC	0.438												
C7orf66	154907	broad.mit.edu	37	7	108524200	108524200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:108524200C>T	uc003vfo.3	-	1	260	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	71						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CATCATGTGACGATATTGAGC	0.418												
LMBR1	64327	broad.mit.edu	37	7	156518202	156518202	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:156518202G>T	uc010lqn.3	-	14	1423	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	LMBR1_uc003wmv.4_Missense_Mutation_p.S210Y|LMBR1_uc003wmw.4_Missense_Mutation_p.S362Y|LMBR1_uc003wmx.4_Missense_Mutation_p.S210Y|LMBR1_uc011kvx.2_Missense_Mutation_p.S341Y	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	362						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GCCGACAACAGAGGACACCAT	0.413												
PTPRN2	5799	broad.mit.edu	37	7	157475460	157475460	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:157475460C>T	uc003wno.3	-	12	2079	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	653						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCCCTAGTCCCGAGAGCTT	0.567												
PRSS55	203074	broad.mit.edu	37	8	10396129	10396129	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:10396129C>T	uc003wta.3	+	4	925	c.885C>T	c.(883-885)atC>atT	p.I295I	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	295	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I295I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532												
CPA6	57094	broad.mit.edu	37	8	68396059	68396059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:68396059G>A	uc003xxq.4	-	7	1038	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CPA6_uc003xxr.4_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	261					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCGAAACCTTGAGTTCCTTGA	0.408												
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:125131850G>A	uc003yqw.3	+	40	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1798						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473												
TG	7038	broad.mit.edu	37	8	133879248	133879248	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:133879248G>A	uc003ytw.3	+	0	44	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1					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)		CCAGGAAAATGGCCCTGGTCC	0.592												
PTPDC1	138639	broad.mit.edu	37	9	96860365	96860365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:96860365C>A	uc010mrj.2	+	5	1619	c.1517C>A	c.(1516-1518)aCa>aAa	p.T506K	PTPDC1_uc004auf.2_Missense_Mutation_p.T452K|PTPDC1_uc004aug.2_Missense_Mutation_p.T452K|PTPDC1_uc004auh.2_Missense_Mutation_p.T504K|PTPDC1_uc010mri.2_Missense_Mutation_p.T504K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	452							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTCGCAGCACACTTTCTTTC	0.483												
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:130952718A>G	uc011mas.2	-	2	431	c.266T>C	c.(265-267)cTc>cCc	p.L89P	CIZ1_uc004btr.3_Missense_Mutation_p.L59P|CIZ1_uc004bts.3_Missense_Mutation_p.L59P|CIZ1_uc011maq.2_Missense_Mutation_p.L59P|CIZ1_uc004btu.3_Missense_Mutation_p.L59P|CIZ1_uc004btt.3_Missense_Mutation_p.L59P|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.L59P|CIZ1_uc004btv.3_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	59						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582												
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:141070064G>A	uc010ncq.3	+	3	1144	c.304G>A	c.(304-306)Gtg>Atg	p.V102M						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		TGGCAGGTACGTGCCCCGCGC	0.716												
FRMPD4	9758	broad.mit.edu	37	X	12516825	12516825	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:12516825C>T	uc004cuz.2	+	1	574	c.68C>T	c.(67-69)cCg>cTg	p.P23L	FRMPD4_uc011mij.2_Missense_Mutation_p.P15L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	23					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGGCTGGCCGCCTCCCTCG	0.512												
CDKL5	6792	broad.mit.edu	37	X	18622187	18622187	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:18622187C>A	uc004cym.3	+	11	1396	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	CDKL5_uc004cyn.3_Silent_p.T381T|CDKL5_uc022btn.1_Silent_p.T372T	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	381					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTGCACACCAAAACCTACC	0.507												
SYP	6855	broad.mit.edu	37	X	49048188	49048188	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49048188G>A	uc004dmz.1	-	5	664	c.648C>T	c.(646-648)gtC>gtT	p.V216V	SYP_uc011mmz.1_Silent_p.V98V	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	216	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACAGGTTGCCGACCCAGAGCA	0.677												
FOXP3	50943	broad.mit.edu	37	X	49112252	49112252	+	Missense_Mutation	SNP	G	G	A	rs2232369		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49112252G>A	uc004dnf.4	-	6	847	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOXP3_uc011mnb.2_Missense_Mutation_p.A243V|FOXP3_uc011mnc.2_Missense_Mutation_p.A220V|FOXP3_uc004dne.4_Missense_Mutation_p.A185V|FOXP3_uc022bwa.1_Missense_Mutation_p.A170V	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	220					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AAGATGGTCCGCCTGGCAGTG	0.587												
ITIH6	347365	broad.mit.edu	37	X	54777784	54777784	+	Missense_Mutation	SNP	C	C	T	rs146825535		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:54777784C>T	uc004dtj.2	-	11	3412	c.3382G>A	c.(3382-3384)Gca>Aca	p.A1128T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1128					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTTGGTGGTGCGCCAAGCAGC	0.592												
TEX11	56159	broad.mit.edu	37	X	69825267	69825267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:69825267G>T	uc004dyl.3	-	24	2258	c.2096C>A	c.(2095-2097)tCa>tAa	p.S699*	TEX11_uc004dyk.3_Nonsense_Mutation_p.S374*|TEX11_uc004dym.3_Nonsense_Mutation_p.S684*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	699							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAAGCTGTTGAAGCTTTTCT	0.388												
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:155239824A>G	uc004fnv.1	+	8	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	439	Poly-Asn.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642												
