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
USP40	55230	broad.mit.edu	37	2	234434124	234434124	+	Splice_Site	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:234434124C>T	ENST00000251722.6	-	14	1924	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	USP40_ENST00000427112.2_Splice_Site_p.G603R|USP40_ENST00000450966.1_Splice_Site_p.G615R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	603					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTTATCTTACCGCCAAGTGAC	0.403000													5	40					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	127					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	127					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107968473	107968473	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:107968473C>T	ENST00000393094.2	+	17	2632	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	672					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCAGGAGTTCAGTTTAATGT	0.338000													13	80					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:18152553G>A	ENST00000375406.1	+	3	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	214						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	48					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106933	119106933	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:119106933C>T	ENST00000328252.3	+	14	4092	c.3723C>T	c.(3721-3723)agC>agT	p.S1241S	PAPPA_ENST00000534838.1_Silent_p.S279S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1241	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGAGCTGCCGGACAG	0.582000													4	83					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:120567452C>G	ENST00000263708.2	+	2	794	c.23C>G	c.(22-24)cCt>cGt	p.P8R	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	8						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTCCGATTGCCTGCTGGCAGA	0.388000													36	54					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:103291134G>T	ENST00000520539.1	-	44	6814	c.6208C>A	c.(6208-6210)Cca>Aca	p.P2070T	UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2070					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTGACTTGGACGGCCAAAA	0.353000													5	146					0.217242	0.217242	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:159654416G>A	ENST00000297267.9	+	11	3072	c.2872G>A	c.(2872-2874)Gcg>Acg	p.A958T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	958						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGCACAGACGCGGACACGGA	0.622000													4	27					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241658482	241658482	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:241658482C>T	ENST00000498729.2	-	47	5401	c.5155G>A	c.(5155-5157)Gtg>Atg	p.V1719M	KIF1A_ENST00000320389.7_Missense_Mutation_p.V1618M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1618					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGTTGAGCACGAACCGCTCC	0.662000													4	100					0	0	1	0	0
TRBV7-4	0	broad.mit.edu	37	7	142176782	142176782	+	RNA	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:142176782G>T	ENST00000390369.2	-	0	8																											AGAGGAGCCTGGTGCCCATGG	0.552000													4	87					0.00116845	0.00128932	1	1	0
SEPT7	989	broad.mit.edu	37	7	35913345	35913345	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:35913345G>T	ENST00000494488.2	+	5	430	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000435235.1_Missense_Mutation_p.V105L|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L			Q16181	SEPT7_HUMAN	septin 7	158					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TGATAACAGGGTGCAGTGTTG	0.408000													5	158					0.000602214	0.000688245	1	1	0
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483000													4	44					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882445	68882445	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:68882445C>T	ENST00000303786.3	+	3	1339	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	307						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCATCGTGCGCGACTTCTT	0.577000													10	56					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160665083	160665083	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGAGTGATCTGTTGAAAGA	0.313000													10	39					6.42651e-13	8.22594e-13	1	1	0
FBXO42	54455	broad.mit.edu	37	1	16641764	16641764	+	Silent	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:16641764C>A	ENST00000375592.3	-	2	366	c.150G>T	c.(148-150)ctG>ctT	p.L50L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	50	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCTCTTCTGGCAGCTCCGACA	0.488000													9	69					0.0581538	0.0610138	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	16					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:76022612G>A	ENST00000393004.2	-	5	3157	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTGACTGGGGACATGGCTCG	0.448000													8	171					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692051	116692051	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:116692051C>T	ENST00000357780.3	-	3	837	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTGGAAGGTCAGGCCCTCAA	0.632000													21	133					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:121426335A>C	ENST00000306185.3	-	6	701	c.410T>G	c.(409-411)aTt>aGt	p.I137S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	137					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTCTTAAGAATATCTTCTGG	0.289000													8	23					0	0	1	0	0
ARHGEF1	0	broad.mit.edu	37	19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:42396405C>A	ENST00000599846.1	+	6	453	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	110	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGCAGGTTCTCCGGGTGCC	0.612000													5	134					0.00116845	0.00128932	1	1	0
ZNF830	91603	broad.mit.edu	37	17	33289179	33289179	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	198					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CCTCTTCACGGGAGGTAACAA	0.507000													3	36					0.115264	0.118982	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53563401	53563401	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chrX:53563401C>T	ENST00000342160.3	-	78	12822	c.12365G>A	c.(12364-12366)cGt>cAt	p.R4122H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4122	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R4012H(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCAGAAGACGGTTGTCATA	0.493000													13	48					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													7	208					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006353G>T	ENST00000397910.4	-	45	39868	c.39665C>A	c.(39664-39666)aCc>aAc	p.T13222N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13224	SEA 8.				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						CCTGAGCAAGGTCAGTCTGCA	0.502000													4	122					0.150653	0.153045	1	1	0
MUC16	94025	broad.mit.edu	37	19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8.				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						AACACTGGTGCTCTTGAACAA	0.562000													4	116					0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:107528754T>C	ENST00000374762.3	+	2	280	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTGAATTGGTTGGATTCTGG	0.328000													10	111					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													5	50					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56160643	56160643	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr5:56160643G>A	ENST00000399503.3	+	4	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	306					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.R143H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAAACAAACCGCCGTGTTAAC	0.488000													7	58					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44433202	44433202	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr21:44433202C>T	ENST00000291547.5	+	5	587	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	126			R -> H (in dbSNP:rs9976017).				sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAGGTTTTGCGCATTCATCT	0.373000													7	107					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:15587012C>A	ENST00000292609.4	-	2	598	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACAACATCTGGAAAGGTA	0.582000													10	54					0.00621372	0.0067403	1	1	0
SLC38A11	151258	broad.mit.edu	37	2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:165755002G>C	ENST00000303735.4	-	10	1430	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	389					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CTGAACATGAGACTCTGAGGT	0.353000													3	53					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84118519	84118519	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:84118519G>A	ENST00000372142.2	+	3	459	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	283					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517000													9	61					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731392	24731392	+	Missense_Mutation	SNP	G	G	A	rs147479810		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24731392G>A	ENST00000206765.6	-	2	290	c.167C>T	c.(166-168)gCg>gTg	p.A56V	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	56	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCATCTGCCGCATTTCGGCA	0.657000													10	62					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109545824	109545824	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:109545824G>A	ENST00000409271.1	-	5	629	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EDAR_ENST00000376651.1_Silent_p.Y62Y|EDAR_ENST00000258443.2_Silent_p.Y62Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	62					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTTGGTGCCGTAGCCACAGG	0.602000													3	47					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	100					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:220334050T>C	ENST00000312358.7	+	13	3796	c.3664T>C	c.(3664-3666)Ttc>Ctc	p.F1222L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCTGGTTCCACAATGG	0.642000													3	22					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364265	10364265	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:10364265G>A	ENST00000377093.4	+	21	3175	c.3022G>A	c.(3022-3024)Ggg>Agg	p.G1008R	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGAAAAAGGGGGTAAAGG	0.413000													7	151					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183247	33183247	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:33183247C>T	ENST00000397061.3	+	1	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	127	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TCCGCATCTGCGCCGTGCGGG	0.701000													3	19					0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:45473237G>T	ENST00000298295.3	-	2	459	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	81						mitochondrion				lung(1)	1						GTCTCGCAGGGACACAGCAGG	0.672000													10	66					1.33987e-11	1.68141e-11	1	1	0
CLK1	1195	broad.mit.edu	37	2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:201724917T>C	ENST00000434813.2	-	4	872	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	138	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACACTCCTGGTTCTTTTCCTT	0.438000													6	83					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1281299	1281299	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:1281299G>T	ENST00000381867.1	+	6	1026	c.384G>T	c.(382-384)gtG>gtT	p.V128V	SNPH_ENST00000381873.3_Silent_p.V84V			O15079	SNPH_HUMAN	syntaphilin	84					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAGGAGGTGTGCATCCGGC	0.652000													7	36					2.0095e-06	2.38163e-06	1	1	0
SLC39A10	57181	broad.mit.edu	37	2	196545261	196545261	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:196545261A>G	ENST00000409086.3	+	2	770	c.495A>G	c.(493-495)aaA>aaG	p.K165K	SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	165	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTCTGTAAAATCTGATGATA	0.348000													14	89					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:47696450A>T	ENST00000393331.3	-	7	843	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000393328.2_Missense_Mutation_p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433000										Prostate(2;0.17)			46	88					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24791911	24791911	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24791911G>A	ENST00000310677.4	-	20	2459	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	782					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCAGCACTCCGGGCCTGAAGG	0.602000													11	16					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:42915623C>T	ENST00000372565.3	-	2	487	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_ENST00000433602.2_Silent_p.T20T	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547000													13	86					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097623	38097623	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr4:38097623A>G	ENST00000261439.4	+	14	2665	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V	TBC1D1_ENST00000508802.1_Silent_p.V864V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	770						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTAAAGAAGTAACTACAGTGT	0.413000													6	116					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr15:78466000C>A	ENST00000258873.4	-	13	2229	c.2024G>T	c.(2023-2025)cGg>cTg	p.R675L	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562000													11	47					1.58986e-06	1.91984e-06	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124253093	124253093	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124253093G>A	ENST00000375013.2	-	1	165	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAGTGA	0.423000													4	164					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:112605385G>A	ENST00000341068.3	-	15	2480	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATTATAGAGAGAATCATGA	0.363000													8	168					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:5283271G>T	ENST00000546004.1	-	3	816	c.570C>A	c.(568-570)taC>taA	p.Y190*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	190						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGTTGCAAAGTAAGCCGATG	0.498000										HNSCC(71;0.22)			6	123					3.59834e-05	4.18715e-05	1	1	0
OMA1	115209	broad.mit.edu	37	1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	41					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTAACTTGTACTTGATGACAG	0.393000													13	149					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007742	99007742	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr12:99007742G>A	ENST00000342502.2	-	3	1085	c.674C>T	c.(673-675)aCa>aTa	p.T225I	IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	225					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GAGCGTTGCTGTTCGATCAAT	0.338000													26	63					0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93471313	93471313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:93471313C>A	ENST00000448108.2	-	3	1071	c.421G>T	c.(421-423)Gaa>Taa	p.E141*		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCGTTTTTTTCATTCTCTGAT	0.358000													20	97					3.62473e-10	4.46121e-10	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	G	A	rs140121900	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124267101G>A	ENST00000354597.3	-	1	163	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAATGA	0.418000													14	121					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64081763	64081763	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:64081763G>A	ENST00000405666.1	+	4	729	c.495G>A	c.(493-495)ccG>ccA	p.P165P	ESRRA_ENST00000000442.6_Silent_p.P165P|ESRRA_ENST00000406310.1_Silent_p.P165P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	165					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AGCGGCGGCCGGAGGTGGACC	0.682000													3	10					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90475763	90475764	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:90475763_90475764insT	ENST00000370447.3	+	6	586_587	c.465_466insT	c.(466-468)tttfs	p.F156fs	ZNF326_ENST00000340281.4_Frame_Shift_Ins_p.F245fs|ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.F39fs			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326		Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGATGCAGCCATTTAATAAGCC	0.386													28	67	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69472510	69472511	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:69472510_69472511insC	ENST00000303714.4	+	18	1910_1911	c.1588_1589insC	c.(1588-1590)accfs	p.T530fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	530	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cagcgcccctacccctcccatc	0.708									Familial Infantile Hemangioma				2	4	---	---	---	---					
NXPH2	11249	broad.mit.edu	37	2	139429025	139429027	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:139429025_139429027delTGA	ENST00000272641.3	-	2	366_368	c.260_262delTCA	c.(259-264)atcacg>acg	p.I87del		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	87	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TGAATCTCCGTGATGTTGGCCAG	0.488													21	55	---	---	---	---					
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	17					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773													2	4	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110435612	110435613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr13:110435612_110435613insG	ENST00000375856.3	-	1	3302_3303	c.2788_2789insC	c.(2788-2790)cgcfs	p.R930fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	930					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.R930fs*61(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGGCGACAGGCGGGCCCCGGGC	0.738													2	4	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23299146	23299147	+	RNA	INS	-	-	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr15:23299146_23299147insA	ENST00000560464.1	-	0	4510																											TACATTCAAAGAAAAAAAAAAA	0.317													3	5	---	---	---	---					
SBNO2	22904	broad.mit.edu	37	19	1149395	1149395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:1149395delG	ENST00000361757.3	-	3	377	c.140delC	c.(139-141)ccafs	p.P47fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	47					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GGCAGGGTATGGCGGCAGCGA	0.617													2	4	---	---	---	---					
