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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
MYRF	745	broad.mit.edu	37	11	61549225	61549226	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:61549225_61549226insC	ENST00000278836.5	+	22	3041_3042	c.2945_2946insC	c.(2944-2949)ggccggfs	p.R983fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Frame_Shift_Ins_p.R374fs|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.R948fs	NM_001127392.1	NP_001120864.1			myelin regulatory factor	NA											NA						GGTTTCCATGGCCGGGCCCGCC	0.673		NA											False	2	False	11:61549225	0
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579		NA											False	0	False	15:41857341	0
PRG4	10216	broad.mit.edu	37	1	186276544	186276591	+	In_Frame_Del	DEL	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	-	rs146182118		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	-	-	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:186276544_186276591delCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	ENST00000445192.2	+	7	1738_1785	c.1693_1740delCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	c.(1693-1740)cccaaggagcctgcacccaccacccccaagaagcctgccccaactaccdel	p.PKEPAPTTPKKPAPTT565del	PRG4_ENST00000367486.3_In_Frame_Del_p.PKEPAPTTPKKPAPTT522del|PRG4_ENST00000367485.4_In_Frame_Del_p.PKEPAPTTPKKPAPTT472del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PKEPAPTTPKKPAPTT524del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	565	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)|p.A569A(1)|p.A577A(1)|p.T579T(1)|p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGC	0.637		NA											False	1	True	1:186276544	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
RBMX	27316	broad.mit.edu	37	X	135958816	135958817	+	Splice_Site	DEL	TG	TG	-			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	NA						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396		NA											False	1	False	X:135958816	0
PRKRA	8575	broad.mit.edu	37	2	179309229	179309229	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	NA					immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338		NA											False	1	True	2:179309229	0
BSN	8927	broad.mit.edu	37	3	49662573	49662574	+	In_Frame_Ins	INS	-	-	GTA			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:49662573_49662574insGTA	ENST00000296452.4	+	2	504_505	c.390_391insGTA	c.(391-393)gta>GTAgta	p.131_131V>VV		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	131					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACGCTGCAGGTAGACAGCAG	0.653		NA											False	1	False	3:49662573	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
DEPDC1B	55789	broad.mit.edu	37	5	59941390	59941390	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:59941390G>A	ENST00000265036.5	-	4	574	c.507C>T	c.(505-507)tgC>tgT	p.C169C	DEPDC1B_ENST00000545085.1_Silent_p.C142C|DEPDC1B_ENST00000453022.2_Silent_p.C169C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GGACAAGACGGCAAGCTGGCA	0.438		NA											False	0	False	5:59941390	0
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662		NA											False	0	True	11:281566	0
FAM19A2	338811	broad.mit.edu	37	12	62148670	62148670	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:62148670G>T	ENST00000416284.3	-	3	1826	c.242C>A	c.(241-243)gCt>gAt	p.A81D	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	81						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACATGATGGAGCAGCTCGCGT	0.498		NA											False	0	False	12:62148670	0
OXCT2	64064	broad.mit.edu	37	1	40236249	40236249	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:40236249C>T	ENST00000327582.5	-	1	771	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	227					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	AAATTGCGGGCGCTTCTCCTG	0.622		NA									OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:40236249	0
OR10C1	442194	broad.mit.edu	37	6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCTCCTACGGGCGTATCCT	0.582		NA											False	0	True	6:29408444	0
INTS9	55756	broad.mit.edu	37	8	28669965	28669965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:28669965G>A	ENST00000416984.2	-	7	919	c.560C>T	c.(559-561)gCg>gTg	p.A187V	INTS9_ENST00000397363.4_Missense_Mutation_p.A102V|INTS9_ENST00000521777.1_Missense_Mutation_p.A184V|INTS9_ENST00000521022.1_Missense_Mutation_p.A208V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	208					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACCTGGACCGCACCAAAAAG	0.463		NA											False	0	False	8:28669965	0
STOX2	56977	broad.mit.edu	37	4	184930914	184930914	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:184930914G>A	ENST00000308497.4	+	3	2358	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	308					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACGATCCCTCGGGAAGTAGAG	0.502		NA											False	0	True	4:184930914	0
NPY4R	0	broad.mit.edu	37	10	47087166	47087166	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr10:47087166C>T	ENST00000374312.1	+	3	802	c.383C>T	c.(382-384)tCc>tTc	p.S128F	NPY4R_ENST00000395716.1_Missense_Mutation_p.S128F	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4	NA											NA						GTGACGGTCTCCATCCTCTCG	0.587		NA											False	0	False	10:47087166	0
CEACAM6	4680	broad.mit.edu	37	19	42260672	42260672	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:42260672A>C	ENST00000199764.6	+	2	447	c.229A>C	c.(229-231)Agt>Cgt	p.S77R	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	77	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGATGGCAACAGTCTAATTGT	0.502		NA											False	0	False	19:42260672	0
PIAS2	9063	broad.mit.edu	37	18	44470558	44470558	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:44470558T>C	ENST00000585916.1	-	2	483	c.484A>G	c.(484-486)Aag>Gag	p.K162E	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	162	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTCGTGGGCTTGATGAGAACA	0.398		NA											False	0	False	18:44470558	0
TOR2A	27433	broad.mit.edu	37	9	130496760	130496760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:130496760G>A	ENST00000373281.5	-	2	258	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373284.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	79					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCTGGGTCCCGCACAAAGGCC	0.662		NA									OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:130496760	0
SPINK5	11005	broad.mit.edu	37	5	147510862	147510862	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:147510862T>C	ENST00000359874.3	+	32	3168	c.3095T>C	c.(3094-3096)aTa>aCa	p.I1032T	SPINK5_ENST00000256084.7_Missense_Mutation_p.I1002T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1002	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCCAGGATAGGTTATCTT	0.428		NA											False	0	False	5:147510862	0
IP6K3	117283	broad.mit.edu	37	6	33690903	33690903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:33690903G>T	ENST00000451316.1	-	7	1362	c.827C>A	c.(826-828)tCa>tAa	p.S276*	IP6K3_ENST00000293756.4_Nonsense_Mutation_p.S276*	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	276					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCCCTCCACTGAGAGTTTTCT	0.453		NA											False	0	False	6:33690903	0
KCNB2	9312	broad.mit.edu	37	8	73848256	73848256	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:73848256C>T	ENST00000523207.1	+	3	1254	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	222					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGAAACGGACGAATTTGGAC	0.473		NA											False	0	False	8:73848256	0
WRN	7486	broad.mit.edu	37	8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGCTATTCTGGCAACAAACAA	0.338		NA	"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:31004955	0
ZNF560	147741	broad.mit.edu	37	19	9577789	9577789	+	Missense_Mutation	SNP	G	G	A	rs145243922		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:9577789G>A	ENST00000301480.4	-	10	2047	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R612C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGATCTGAGCGTTCTGTGAAG	0.418		NA											False	0	False	19:9577789	0
SPEG	10290	broad.mit.edu	37	2	220356970	220356970	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:220356970C>A	ENST00000312358.7	+	40	9731	c.9599C>A	c.(9598-9600)tCt>tAt	p.S3200Y	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3200	Protein kinase 2.				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)		AAGGTTCTCTCTGTACATCCC	0.612		NA											False	0	True	2:220356970	0
FBXO33	254170	broad.mit.edu	37	14	39868915	39868915	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:39868915G>A	ENST00000298097.7	-	4	1810	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	491										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGCTTTCTTCGGTGACTTCAA	0.478		NA											False	0	False	14:39868915	0
ZSCAN18	65982	broad.mit.edu	37	19	58600197	58600197	+	Silent	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:58600197C>A	ENST00000240727.6	-	3	810	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000600404.1_Silent_p.L193L|ZSCAN18_ENST00000421612.2_Silent_p.L2L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGAGCCCAGCAGCATCCCTG	0.602		NA											False	0	False	19:58600197	0
TUBB8P7	0	broad.mit.edu	37	16	90162016	90162016	+	RNA	SNP	A	A	C			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:90162016A>C	ENST00000564451.1	+	0	1369				TUBB8P7_ENST00000567960.1_RNA						NA											NA						TGCTGACCTGAGGAAGCTGGC	0.622		NA											False	0	False	16:90162016	0
TMEM59	9528	broad.mit.edu	37	1	54518728	54518728	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:54518728G>A	ENST00000234831.5	-	1	383	c.134C>T	c.(133-135)aCg>aTg	p.T45M	TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	45						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCAAGACGCCGTATCACCCAA	0.657		NA											False	0	False	1:54518728	0
FZD7	8324	broad.mit.edu	37	2	202900003	202900003	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:202900003C>T	ENST00000286201.1	+	1	694	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	211					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTCATGCCCCCGTCAGCTCA	0.711		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:202900003	0
FCGBP	8857	broad.mit.edu	37	19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	rs141203655	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602		NA											False	0	True	19:40368750	0
VARS	7407	broad.mit.edu	37	6	31748522	31748522	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31748522G>A	ENST00000375663.3	-	24	3197	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	919					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGAGAGCATCGGTGCCACATT	0.612		NA											False	0	False	6:31748522	0
FLG	2312	broad.mit.edu	37	1	152282228	152282228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:152282228G>A	ENST00000368799.1	-	3	5169	c.5134C>T	c.(5134-5136)Cga>Tga	p.R1712*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCTCGGTTTCCACTG	0.587		NA							Ichthyosis				False	0	False	1:152282228	0
BCHE	590	broad.mit.edu	37	3	165547794	165547794	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:165547794G>T	ENST00000264381.3	-	2	1194	c.1028C>A	c.(1027-1029)aCc>aAc	p.T343N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	343					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAA	0.383		NA											False	0	True	3:165547794	0
TIGD2	166815	broad.mit.edu	37	4	90034245	90034245	+	Silent	SNP	C	C	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:90034245C>A	ENST00000317005.2	+	1	278	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	40	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTGGTGAATCCACAGTTCGTG	0.363		NA											False	0	False	4:90034245	0
BEND4	389206	broad.mit.edu	37	4	42127607	42127607	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:42127607G>A	ENST00000502486.1	-	4	1718	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	BEND4_ENST00000504360.1_Missense_Mutation_p.P376L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	380										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TACCTCTGTCGGCTGGTCAGC	0.458		NA											False	0	False	4:42127607	0
SAMM50	25813	broad.mit.edu	37	22	44384997	44384997	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:44384997A>G	ENST00000350028.4	+	13	1239	c.1082A>G	c.(1081-1083)tAc>tGc	p.Y361C	SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	361					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTAGGAGACTACCTAGGTGGA	0.517		NA											False	0	False	22:44384997	0
PRAM1	84106	broad.mit.edu	37	19	8564207	8564207	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:8564207G>A	ENST00000423345.4	-	2	1005	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	210	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGGGCCGGCGCACCAGGCTC	0.672		NA											False	0	False	19:8564207	0
TMTC1	83857	broad.mit.edu	37	12	29659861	29659861	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:29659861C>T	ENST00000256062.5	-	18	2716	c.2243G>A	c.(2242-2244)aGc>aAc	p.S748N	TMTC1_ENST00000539277.1_Missense_Mutation_p.S856N|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	856						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAGCAGTTTGCTGTCTGGAAC	0.443		NA											False	0	False	12:29659861	0
SMCHD1	23347	broad.mit.edu	37	18	2666912	2666912	+	Silent	SNP	G	G	A	rs7229488		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:2666912G>A	ENST00000320876.6	+	3	644	c.306G>A	c.(304-306)tcG>tcA	p.S102S	SMCHD1_ENST00000261598.8_Silent_p.S102S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	102					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACAGTCGGTCAATCAGT	0.388		NA											False	0	False	18:2666912	0
AVP	551	broad.mit.edu	37	20	3065237	3065237	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:3065237G>A	ENST00000380293.3	-	1	133	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCCTCTTGCCGCCCCTCGGGC	0.647		NA											False	0	True	20:3065237	0
SGSM1	129049	broad.mit.edu	37	22	25294312	25294312	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:25294312C>T	ENST00000400358.4	+	19	2453	c.2396C>T	c.(2395-2397)aCg>aTg	p.T799M	SGSM1_ENST00000400359.4_Missense_Mutation_p.T854M	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	854	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGTCCATCACGGGCAGCCTG	0.612		NA											False	0	True	22:25294312	0
DCLK3	85443	broad.mit.edu	37	3	36759634	36759634	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:36759634G>A	ENST00000416516.2	-	4	2110	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	540	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G540G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGGATCACGCCAGCAGCCC	0.547		NA											False	0	False	3:36759634	0
HECW2	57520	broad.mit.edu	37	2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423		NA											False	0	False	2:197187274	0
GRIN2B	2904	broad.mit.edu	37	12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:13717533C>T	ENST00000609686.1	-	13	2848	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R880P(1)|p.R880H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACAGACTGGCGCTCCTCGAT	0.537		NA											False	0	False	12:13717533	0
AP1AR	55435	broad.mit.edu	37	4	113181980	113181980	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:113181980G>A	ENST00000274000.5	+	5	599	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	82	Interaction with AP1G1.				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TTCCATTGCCGAAAAACAAAA	0.299		NA											False	0	True	4:113181980	0
DNAH10	196385	broad.mit.edu	37	12	124397822	124397822	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:124397822G>A	ENST00000409039.3	+	59	9983	c.9958G>A	c.(9958-9960)Gca>Aca	p.A3320T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3320					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTGATTGCCGCAGACAAACT	0.537		NA											False	0	False	12:124397822	0
CILP2	148113	broad.mit.edu	37	19	19655586	19655586	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:19655586C>T	ENST00000586018.1	+	8	2352	c.2250C>T	c.(2248-2250)taC>taT	p.Y750Y	CILP2_ENST00000291495.5_Silent_p.Y744Y			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	744						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCGCGCCTACGCCAACGACA	0.682		NA											False	0	False	19:19655586	0
METAP1D	254042	broad.mit.edu	37	2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:172926348C>T	ENST00000315796.4	+	2	550	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	55					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TATAGTTTTGCCGGCTGCAGT	0.398		NA											False	0	False	2:172926348	0
SLC22A16	85413	broad.mit.edu	37	6	110763856	110763856	+	Silent	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:110763856A>G	ENST00000368919.3	-	4	840	c.774T>C	c.(772-774)gcT>gcC	p.A258A	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000330550.4_Silent_p.A224A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	258					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATCCTGTCAAAGCCACCAGCA	0.507		NA											False	0	True	6:110763856	0
C18orf8	29919	broad.mit.edu	37	18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428		NA											False	0	True	18:21099089	0
EBF2	64641	broad.mit.edu	37	8	25890660	25890660	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:25890660G>A	ENST00000520164.1	-	6	1029	c.492C>T	c.(490-492)tgC>tgT	p.C164C	EBF2_ENST00000408929.3_Silent_p.C16C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	164					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTTCTTTTCGCAGCATCGAC	0.393		NA											False	0	False	8:25890660	0
THADA	63892	broad.mit.edu	37	2	43787408	43787408	+	Silent	SNP	G	G	A	rs78531159		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:43787408G>A	ENST00000405006.4	-	16	2779	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000330266.7_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000405975.2_Silent_p.L810L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	810							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTTCATCAGAAGATCAAAT	0.338		NA											False	0	False	2:43787408	0
CD81	975	broad.mit.edu	37	11	2411735	2411735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:2411735G>A	ENST00000263645.5	+	2	416	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000526072.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	54					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGACAAGCCCGCGCCCAACAC	0.617		NA											False	0	True	11:2411735	0
PTPN1	5770	broad.mit.edu	37	20	49195731	49195731	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:49195731C>T	ENST00000371621.3	+	7	903	c.729C>T	c.(727-729)tcC>tcT	p.S243S	PTPN1_ENST00000541713.1_Silent_p.S170S	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	243	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	p.S243S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	ACCCTTCTTCCGTTGATATCA	0.483		NA											False	0	False	20:49195731	0
IGHV3OR16-9	0	broad.mit.edu	37	16	32077592	32077592	+	RNA	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:32077592C>T	ENST00000354689.6	+	0	207				RP11-1166P10.6_ENST00000566806.1_RNA						NA											NA						GCCGATTCACCATCTCCAGGG	0.522		NA											False	0	False	16:32077592	0
DNAH3	55567	broad.mit.edu	37	16	20975272	20975272	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:20975272C>T	ENST00000261383.3	-	53	9933	c.9934G>A	c.(9934-9936)Gcc>Acc	p.A3312T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3312					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGATGTTGGCCAGGTCCGAG	0.507		NA											False	0	False	16:20975272	0
RBM28	55131	broad.mit.edu	37	7	127975996	127975996	+	Silent	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:127975996A>G	ENST00000223073.2	-	7	828	c.714T>C	c.(712-714)gaT>gaC	p.D238D	RBM28_ENST00000415472.2_Silent_p.D97D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA	Asp/Glu-rich (acidic).				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						catcatcatcatcgtcatcat	0.398		NA											False	0	True	7:127975996	0
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473		NA											False	0	False	11:102826101	0
ODF2	4957	broad.mit.edu	37	9	131256879	131256879	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:131256879G>T	ENST00000434106.3	+	17	2206	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D615Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D591Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGTGCCAAGACCAACTGCA	0.582		NA											False	0	False	9:131256879	0
AOC1	26	broad.mit.edu	37	7	150556084	150556084	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:150556084G>A	ENST00000493429.1	+	5	2388	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	AOC1_ENST00000416793.2_Missense_Mutation_p.D602N|AOC1_ENST00000467291.1_Missense_Mutation_p.D602N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.D602N					amine oxidase, copper containing 1	NA											NA						CTCCATGGCCGACCAGGTGCT	0.647		NA											False	0	False	7:150556084	0
ATP8B2	57198	broad.mit.edu	37	1	154316375	154316375	+	Missense_Mutation	SNP	G	G	A	rs141457358	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:154316375G>A	ENST00000368489.3	+	18	1864	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	608					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGAGTACGCAGGGGAAGG	0.592		NA											False	0	False	1:154316375	0
GYS1	2997	broad.mit.edu	37	19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542		NA											False	0	True	19:49485993	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
LRFN1	57622	broad.mit.edu	37	19	39804696	39804696	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:39804696C>T	ENST00000248668.4	-	1	1280	c.1281G>A	c.(1279-1281)cgG>cgA	p.R427R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	427	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCCACGAGCCGACGCTCAG	0.677		NA											False	0	False	19:39804696	0
IL31RA	133396	broad.mit.edu	37	5	55203287	55203287	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:55203287C>T	ENST00000396834.1	+	12	1792	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	IL31RA_ENST00000447346.2_Splice_Site_p.G451G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	419	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463		NA											False	0	False	5:55203287	0
UBE2F	140739	broad.mit.edu	37	2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	140					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TCAGGATGTCGTTTGGGGATT	0.338		NA											False	0	True	2:238940869	0
IGHV3-11	0	broad.mit.edu	37	14	106573320	106573320	+	RNA	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:106573320G>A	ENST00000390601.2	-	0	383										NA											NA						CCCTGGAGATGGTGAATCGGC	0.537		NA											False	0	False	14:106573320	0
TPCN2	219931	broad.mit.edu	37	11	68853221	68853221	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:68853221G>A	ENST00000294309.3	+	21	2021		c.e21+1		TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	NA					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGACTTTGCGGTGAGCCCTGC	0.687		NA											False	0	False	11:68853221	0
EIF2B2	8892	broad.mit.edu	37	14	75473358	75473358	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:75473358G>A	ENST00000266126.5	+	6	852	c.772G>A	c.(772-774)Gca>Aca	p.A258T	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	258					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GGCACTGGCAGCAAAACACCA	0.498		NA											False	0	False	14:75473358	0
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493		NA											False	0	False	7:129349051	0
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	A	G	rs140363576	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:18896929A>G	ENST00000446231.2	-	7	1294	c.882T>C	c.(880-882)tgT>tgC	p.C294C	SMG1_ENST00000565224.1_Silent_p.C268C|SMG1_ENST00000389467.3_Silent_p.C294C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	294	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAACACATTTACAAAGCAATT	0.373		NA											False	0	True	16:18896929	0
RELN	5649	broad.mit.edu	37	7	103180720	103180720	+	Missense_Mutation	SNP	C	C	T	rs116394157	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:103180720C>T	ENST00000428762.1	-	44	7013	c.6854G>A	c.(6853-6855)cGt>cAt	p.R2285H	RELN_ENST00000343529.5_Missense_Mutation_p.R2285H|RELN_ENST00000424685.2_Missense_Mutation_p.R2285H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2285					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAACCAGAACGGGCTTTCAA	0.527		NA											False	0	True	7:103180720	0
HAS1	3036	broad.mit.edu	37	19	52217079	52217079	+	Silent	SNP	C	C	T			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:52217079C>T	ENST00000540069.2	-	5	1395	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	HAS1_ENST00000601714.1_Silent_p.A453A|HAS1_ENST00000222115.1_Silent_p.A446A			Q92839	HAS1_HUMAN	hyaluronan synthase 1	446					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCGAAGGCCGCCTTGGCCA	0.697		NA											False	0	False	19:52217079	0
SLC7A7	9056	broad.mit.edu	37	14	23244654	23244654	+	Splice_Site	SNP	T	T	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:23244654T>A	ENST00000397532.3	-	7	1619	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	SLC7A7_ENST00000554517.1_Splice_Site_p.N99I|SLC7A7_ENST00000397529.2_Splice_Site_p.N365I|SLC7A7_ENST00000555702.1_Splice_Site_p.N365I|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Splice_Site_p.N365I|SLC7A7_ENST00000397528.4_Splice_Site_p.N365I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	365			N -> Y (in LPI).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTCACTTACATTGAAGAGCAG	0.473		NA											False	0	False	14:23244654	0
PRDM10	56980	broad.mit.edu	37	11	129800938	129800938	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:129800938G>A	ENST00000358825.5	-	11	1734	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000423662.2_Silent_p.D415D|PRDM10_ENST00000360871.3_Silent_p.D501D|PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000526082.1_Silent_p.D415D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCGCATGTCGTCGGCTGTCA	0.622		NA											False	0	False	11:129800938	0
TNXB	7148	broad.mit.edu	37	6	32012898	32012898	+	Silent	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:32012898G>A	ENST00000375244.3	-	32	11013	c.10812C>T	c.(10810-10812)ggC>ggT	p.G3604G	TNXB_ENST00000375247.2_Silent_p.G3602G|TNXB_ENST00000451343.1_Silent_p.G33G			P22105	TENX_HUMAN	tenascin XB	3649	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCTGGTCGCCGTCCACGA	0.647		NA											False	0	False	6:32012898	0
NIPBL	25836	broad.mit.edu	37	5	36985035	36985035	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:36985035A>G	ENST00000282516.8	+	10	2252	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	585					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGGAAGATATTGTTGGAAG	0.373		NA											False	0	False	5:36985035	0
VWA7	80737	broad.mit.edu	37	6	31737463	31737463	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31737463G>A	ENST00000375686.3	-	9	1543	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	VWA7_ENST00000375688.4_Missense_Mutation_p.R436W|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R436W	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	436						extracellular region					NA						CGGCAGCGCCGCTCCTGAGTC	0.572		NA											False	0	False	6:31737463	0
