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
TACC2	10579	broad.mit.edu	37	10	123988930	123988931	+	Frame_Shift_Del	DEL	TG	TG	-	rs138735982	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:123988930_123988931delTG	ENST00000369005.1	+	15	8306_8307	c.7966_7967delTG	c.(7966-7968)tgtfs	p.C2656fs	TACC2_ENST00000369004.3_Frame_Shift_Del_p.C746fs|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.C2656fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Del_p.C802fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.C734fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.C802fs|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000360561.3_Frame_Shift_Del_p.C734fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000368999.1_Frame_Shift_Del_p.C746fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2656						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTCTCTCTCTGTGGTGCACTT	0.574		NA											False	2	True	10:123988930	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
MYOM1	8736	broad.mit.edu	37	18	3086037	3086046	+	Splice_Site	DEL	TCTGTTATAA	TCTGTTATAA	-	rs146346828	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	TCTGTTATAA	TCTGTTATAA	-	-	TCTGTTATAA	TCTGTTATAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:3086037_3086046delTCTGTTATAA	ENST00000356443.4	-	30	4574_4583	c.4241_4250delTTATAACAGA	c.(4240-4251)cttataacagag>cg	p.LITE1414fs	MYOM1_ENST00000261606.7_Splice_Site_p.LITE1318fs|MYOM1_ENST00000400569.3_Splice_Site_p.LITE1414fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1414	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCGCCTACCTCTGTTATAAGCAGGGTACA	0.371		NA											False	1	False	18:3086037	0
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)caadel	p.Q1272del	NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del	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	1276	Acetyltransferase.|Poly-Gln.				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						gcagcagcagcaacagcaacagc	0.567		NA											False	1	True	20:46279864	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	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-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	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
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
TMEM178A	130733	broad.mit.edu	37	2	39934299	39934299	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:39934299G>A	ENST00000281961.2	+	3	681	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A	NA											NA						GACCCAGCACGTGGCTGGACT	0.602		NA											False	0	False	2:39934299	0
CD8B	926	broad.mit.edu	37	2	87085431	87085431	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:87085431C>T	ENST00000390655.6	-	2	210	c.152G>A	c.(151-153)cGc>cAc	p.R51H	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H|CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	51	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCAGTAGATGCGCATGTTACT	0.552		NA											False	0	False	2:87085431	0
APP	351	broad.mit.edu	37	21	27327982	27327982	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:27327982G>A	ENST00000358918.3	-	12	1745	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	APP_ENST00000354192.3_Missense_Mutation_p.R385C|APP_ENST00000346798.3_Missense_Mutation_p.R516C|APP_ENST00000440126.3_Missense_Mutation_p.R492C|APP_ENST00000357903.3_Missense_Mutation_p.R497C|APP_ENST00000439274.2_Missense_Mutation_p.R460C|APP_ENST00000448388.2_Missense_Mutation_p.R406C|APP_ENST00000359726.3_Missense_Mutation_p.R460C|APP_ENST00000348990.5_Missense_Mutation_p.R441C	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	516	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCCACCATGCGCACATGCTCG	0.502		NA											False	0	False	21:27327982	0
ALDOB	229	broad.mit.edu	37	9	104187206	104187206	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:104187206C>T	ENST00000374855.4	-	8	1042	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	306					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CACTGGCCTGCAGGGCCCGTC	0.552		NA											False	0	False	9:104187206	0
MZT1	440145	broad.mit.edu	37	13	73293170	73293170	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:73293170G>A	ENST00000377818.3	-	2	229	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	49					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCACAAAGCCGTACACAAATA	0.353		NA											False	0	False	13:73293170	0
ELAC2	60528	broad.mit.edu	37	17	12898183	12898183	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:12898183G>A	ENST00000338034.4	-	21	2166	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	ELAC2_ENST00000426905.3_Missense_Mutation_p.R603W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R624W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	643					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTGCAGTGCCGCACCAGACAG	0.632		NA											False	0	False	17:12898183	0
CRB1	23418	broad.mit.edu	37	1	197313436	197313436	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:197313436C>T	ENST00000367400.3	+	3	813	c.678C>T	c.(676-678)gaC>gaT	p.D226D	CRB1_ENST00000538660.1_Silent_p.D226D|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.D157D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	226	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAAATTGACGAATGTTGGT	0.418		NA											False	0	False	1:197313436	0
MX2	4600	broad.mit.edu	37	21	42749046	42749046	+	Missense_Mutation	SNP	G	G	T	rs142593261		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42749046G>T	ENST00000330714.3	+	2	397	c.213G>T	c.(211-213)caG>caT	p.Q71H	MX2_ENST00000543692.1_Missense_Mutation_p.Q71H	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	71					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGAACAATCAGCCACCACCAG	0.552		NA											False	0	True	21:42749046	0
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453		NA											False	0	False	2:196825327	0
DENND2C	163259	broad.mit.edu	37	1	115130448	115130448	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:115130448G>A	ENST00000393274.1	-	19	3182	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R796C|DENND2C_ENST00000393277.1_Missense_Mutation_p.R741C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	853	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGACTTACGGAATGGTTCC	0.483		NA											False	0	False	1:115130448	0
RBM45	129831	broad.mit.edu	37	2	178990889	178990889	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:178990889C>G	ENST00000286070.5	+	9	1503	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	473					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TAACAAACGGCAAAGAACTTA	0.348		NA											False	0	True	2:178990889	0
HS3ST1	9957	broad.mit.edu	37	4	11401393	11401393	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:11401393G>A	ENST00000002596.5	-	2	1411	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	79						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.D79D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGGCCGCCACGTCGGGGTGCA	0.662		NA											False	0	False	4:11401393	0
ENPP4	22875	broad.mit.edu	37	6	46108833	46108833	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:46108833A>C	ENST00000321037.4	+	3	1101	c.871A>C	c.(871-873)Atg>Ctg	p.M291L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	291						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGCCCTCATATGAATGTTTA	0.323		NA											False	0	False	6:46108833	0
CDIPT	10423	broad.mit.edu	37	16	29872467	29872467	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:29872467T>C	ENST00000219789.6	-	3	1170	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	98						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						TCCAAACTCATGCTGATTTGG	0.607		NA											False	0	False	16:29872467	0
TCF7L1	83439	broad.mit.edu	37	2	85532397	85532397	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:85532397G>A	ENST00000282111.3	+	8	1135	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	287	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GTCTCCAGTCGGTTCTCTCCT	0.627		NA											False	0	False	2:85532397	0
ZNF132	7691	broad.mit.edu	37	19	58944797	58944797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:58944797G>A	ENST00000254166.3	-	3	2414	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCTGGTGCCGAACAAGTGTA	0.448		NA											False	0	False	19:58944797	0
ACSM3	6296	broad.mit.edu	37	16	20781387	20781387	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:20781387C>T	ENST00000289416.5	+	2	506	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	11					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAAGATGCTACGTCATGCCAA	0.438		NA											False	0	False	16:20781387	0
ZNF546	339327	broad.mit.edu	37	19	40520572	40520572	+	Silent	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:40520572T>C	ENST00000347077.4	+	7	1611	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ZNF546_ENST00000600094.1_Silent_p.G439G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCATACTGGTGAGAAACCCT	0.403		NA											False	0	False	19:40520572	0
GLYAT	10249	broad.mit.edu	37	11	58477299	58477299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:58477299G>T	ENST00000344743.3	-	6	972	c.831C>A	c.(829-831)taC>taA	p.Y277*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	277					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTTGCAGTGTGTAACTCATTT	0.463		NA											False	0	True	11:58477299	0
BRINP3	339479	broad.mit.edu	37	1	190067294	190067294	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:190067294G>A	ENST00000367462.3	-	8	2386	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R617C	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	719								p.R719C(1)			NA						TCTAGACGACGCTGACCAGGT	0.488		NA											False	0	False	1:190067294	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	12:25398285	0
PSG11	5680	broad.mit.edu	37	19	43523094	43523094	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43523094C>T	ENST00000401740.1	-	3	640	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PSG11_ENST00000306322.7_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCATCCACCACAGGTAGCTTG	0.512		NA											False	0	False	19:43523094	0
TNNI3	7137	broad.mit.edu	37	19	55665406	55665406	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:55665406T>G	ENST00000344887.5	-	7	683	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	181					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTCTCGGTGTCCTCCTTC	0.627		NA											False	0	False	19:55665406	0
ADAMTS19	171019	broad.mit.edu	37	5	129039960	129039960	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:129039960G>A	ENST00000274487.4	+	21	3315	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1057	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGGCATACGTCATCGGACC	0.423		NA											False	0	False	5:129039960	0
GBA	2629	broad.mit.edu	37	1	155209725	155209725	+	Translation_Start_Site	SNP	G	G	A	rs1141814		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:155209725G>A	ENST00000428024.3	-	0	337				GBA_ENST00000327247.5_Missense_Mutation_p.R87W|GBA_ENST00000427500.3_Missense_Mutation_p.R87W|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.R87W|GBA_ENST00000536770.1_Intron	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	NA					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AGCTCCATCCGTCGCCCACTG	0.592		NA							Gaucher disease type I				False	0	False	1:155209725	0
SPATA31D1	389763	broad.mit.edu	37	9	84606551	84606551	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:84606551T>C	ENST00000344803.2	+	4	1213	c.1166T>C	c.(1165-1167)tTt>tCt	p.F389S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						TCTGAGGCCTTTTTAGGGGGG	0.473		NA											False	0	True	9:84606551	0
PHACTR3	116154	broad.mit.edu	37	20	58381152	58381152	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr20:58381152C>T	ENST00000371015.1	+	8	1698	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	411						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGAACCGGCCAAGCAAACA	0.512		NA											False	0	False	20:58381152	0
ITSN2	50618	broad.mit.edu	37	2	24432754	24432754	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:24432754G>A	ENST00000355123.4	-	35	4849	c.4406C>T	c.(4405-4407)gCt>gTt	p.A1469V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1442V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1469	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGAAACAGCAAACTGCTT	0.448		NA											False	0	False	2:24432754	0
OR4Q3	441669	broad.mit.edu	37	14	20215715	20215715	+	Silent	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:20215715C>A	ENST00000331723.1	+	1	129	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGAAACCTCTTGATAGTGG	0.408		NA											False	0	False	14:20215715	0
THRAP3	9967	broad.mit.edu	37	1	36752394	36752394	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:36752394G>A	ENST00000354618.5	+	4	787	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	188	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGATAGCCGGCCATCTCAG	0.527		NA	T	USP6	aneurysmal bone cysts								False	0	False	1:36752394	0
BEGAIN	57596	broad.mit.edu	37	14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:101004539C>T	ENST00000556751.1	-	5	4761	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E517K			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	517						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCCCCCCCTCGCTGGGTGCA	0.731		NA											False	0	False	14:101004539	0
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433		NA											False	0	False	6:150715311	0
C5orf34	375444	broad.mit.edu	37	5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	rs143336043		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	75								p.R75*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289		NA											False	0	True	5:43508741	0
EHBP1	23301	broad.mit.edu	37	2	63223823	63223823	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:63223823G>A	ENST00000263991.5	+	21	3720	c.3238G>A	c.(3238-3240)Gca>Aca	p.A1080T	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1080						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAATTGGCAGCACTAGAGAA	0.443		NA											False	0	False	2:63223823	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	True	17:7578212	0
ZNF48	197407	broad.mit.edu	37	16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCTGCCCGCATCAAGCAC	0.592		NA											False	0	True	16:30410328	0
PEX7	5191	broad.mit.edu	37	6	137193340	137193340	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:137193340C>T	ENST00000318471.4	+	8	833	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	251					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTGTAGTTTTCACCATTTCAT	0.303		NA											False	0	True	6:137193340	0
KANSL1L	151050	broad.mit.edu	37	2	210887849	210887849	+	Missense_Mutation	SNP	A	A	T	rs145783202		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:210887849A>T	ENST00000281772.9	-	15	3051	c.2788T>A	c.(2788-2790)Tta>Ata	p.L930I	KANSL1L_ENST00000418791.1_Missense_Mutation_p.L888I	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	930											NA						TGACATAATAAGGCTGCCATG	0.433		NA											False	0	False	2:210887849	0
ANO1	55107	broad.mit.edu	37	11	69978186	69978186	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:69978186G>A	ENST00000355303.5	+	11	1563		c.e11+1		ANO1_ENST00000531349.1_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000538023.1_Splice_Site	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	NA					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCCCTCTGGGGTAAGCAGGGC	0.597		NA											False	0	True	11:69978186	0
VWF	7450	broad.mit.edu	37	12	6105363	6105363	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:6105363C>T	ENST00000261405.5	-	35	6122	c.5868G>A	c.(5866-5868)cgG>cgA	p.R1956R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1956	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACGATGTGCCGAGTGGAGC	0.522		NA											False	0	False	12:6105363	0
ROCK1	6093	broad.mit.edu	37	18	18625398	18625398	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:18625398G>A	ENST00000399799.2	-	5	1385	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	NA	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCATGTAGAGATAACGATCA	0.328		NA											False	0	False	18:18625398	0
HEY2	23493	broad.mit.edu	37	6	126080635	126080635	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:126080635C>T	ENST00000368364.3	+	5	898	c.701C>T	c.(700-702)gCg>gTg	p.A234V	HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	234					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTTGCCCATGCGGATTCAGCC	0.647		NA											False	0	False	6:126080635	0
NRXN3	9369	broad.mit.edu	37	14	79175640	79175640	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:79175640C>T	ENST00000554719.1	+	4	674	c.183C>T	c.(181-183)ggC>ggT	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.G61G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAATCTATGGCGAAGTTGTGT	0.468		NA											False	0	False	14:79175640	0
ZIC3	7547	broad.mit.edu	37	X	136651124	136651124	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:136651124G>A	ENST00000287538.5	+	2	1674	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	375					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCAGCGACCGTAAGAAGCAC	0.502		NA											False	0	False	X:136651124	0
RNF165	494470	broad.mit.edu	37	18	44030346	44030346	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:44030346G>A	ENST00000269439.7	+	5	754	c.703G>A	c.(703-705)Gta>Ata	p.V235I	RNF165_ENST00000543885.1_Missense_Mutation_p.V43I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	235							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCTCCGCCGTACGGGAGAG	0.522		NA											False	0	False	18:44030346	0
PSG8	0	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43259170G>A	ENST00000404209.4	-	4	1054	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.R320C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483		NA											False	0	False	19:43259170	0
PCDHB13	0	broad.mit.edu	37	5	140595672	140595672	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:140595672C>T	ENST00000341948.4	+	1	2164	c.1977C>T	c.(1975-1977)caC>caT	p.H659H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		659	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.716		NA											False	0	False	5:140595672	0
PDXDC1	23042	broad.mit.edu	37	16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	rs151168975	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAGTCAACGGTTGCAGGA	0.368		NA											False	0	False	16:15116567	0
KCTD16	57528	broad.mit.edu	37	5	143853641	143853641	+	Silent	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:143853641T>C	ENST00000507359.3	+	3	2342	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	KCTD16_ENST00000512467.1_Silent_p.P417P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	NA						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAAAACATCCTTGGCAATCTG	0.378		NA											False	0	False	5:143853641	0
PROL1	58503	broad.mit.edu	37	4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448		NA											False	0	False	4:71275677	0
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567		NA									OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:56142409	0
EPHA8	2046	broad.mit.edu	37	1	22924191	22924191	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:22924191C>T	ENST00000166244.3	+	11	2025	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	651	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGTCTGCTACGGGAGGCTGC	0.692		NA											False	0	True	1:22924191	0
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463		NA											False	0	False	10:129906577	0
RHOA	387	broad.mit.edu	37	3	49412957	49412957	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:49412957G>A	ENST00000418115.1	-	2	450	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RHOA_ENST00000454011.2_Silent_p.L22L|RHOA_ENST00000422781.1_Silent_p.L22L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGAAGACTATGAGCAAGCATG	0.473		NA											False	0	True	3:49412957	0
MEF2C	4208	broad.mit.edu	37	5	88027589	88027589	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:88027589C>T	ENST00000504921.2	-	7	1439	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000437473.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	256					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R256L(2)|p.R254L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATAAGAACTCGGAGATCTGG	0.378		NA								HNSCC(66;0.2)			False	0	False	5:88027589	0
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:5603793G>A	ENST00000423158.3	+	2	664	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R138Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602		NA											False	0	False	12:5603793	0
COL1A2	1278	broad.mit.edu	37	7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398		NA								HNSCC(75;0.22)			False	0	False	7:94042405	0
ABCD2	225	broad.mit.edu	37	12	40012541	40012541	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:40012541G>A	ENST00000308666.3	-	1	1012	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	293	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCACATACCGCAAATAGCCT	0.413		NA											False	0	False	12:40012541	0
TAS1R2	80834	broad.mit.edu	37	1	19183978	19183978	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:19183978C>T	ENST00000375371.3	-	2	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	110					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542		NA											False	0	False	1:19183978	0
FEM1B	10116	broad.mit.edu	37	15	68570843	68570843	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:68570843A>G	ENST00000306917.4	+	1	703	c.88A>G	c.(88-90)Agc>Ggc	p.S30G		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	30					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCGGTCTGAAAGCGACATCCG	0.632		NA											False	0	True	15:68570843	0
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373		NA											False	0	False	1:225611758	0
ADAMTS18	170692	broad.mit.edu	37	16	77327045	77327045	+	Silent	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:77327045C>T	ENST00000282849.5	-	20	3535	c.3117G>A	c.(3115-3117)ctG>ctA	p.L1039L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1039	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCCTCCTGCAGCTCAGGTC	0.607		NA											False	0	False	16:77327045	0
CYBB	1536	broad.mit.edu	37	X	37653065	37653065	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:37653065T>C	ENST00000378588.4	+	5	550		c.e5+2		TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Splice_Site	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	NA					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AGAATAAAGGTAAGCCTCTCA	0.373		NA											False	0	False	X:37653065	0
ATP10A	57194	broad.mit.edu	37	15	25924552	25924552	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:25924552C>T	ENST00000356865.6	-	21	4547	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1479					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGTCCTGATCGGCCTGAGTG	0.512		NA											False	0	False	15:25924552	0
CLEC1B	51266	broad.mit.edu	37	12	10147796	10147796	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:10147796C>A	ENST00000428126.2	-	6	658	c.389G>T	c.(388-390)cGc>cTc	p.R130L	CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R163L			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	163	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CGACTTCTGGCGAGATAATCC	0.433		NA											False	0	False	12:10147796	0
SKA3	221150	broad.mit.edu	37	13	21742393	21742393	+	Silent	SNP	T	T	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:21742393T>A	ENST00000314759.5	-	4	601	c.477A>T	c.(475-477)tcA>tcT	p.S159S	SKA3_ENST00000400018.3_Silent_p.S159S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	159					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCCAAAATCTGAAAGTTGTG	0.438		NA											False	0	False	13:21742393	0
SYNE2	23224	broad.mit.edu	37	14	64681074	64681074	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:64681074G>A	ENST00000357395.3	+	107	19518	c.8374G>A	c.(8374-8376)Gag>Aag	p.E2792K	SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6407K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6407					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTCTGGCTGCGAGACCCCTGT	0.632		NA											False	0	False	14:64681074	0
PKD1L1	168507	broad.mit.edu	37	7	47933504	47933504	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:47933504G>A	ENST00000289672.2	-	15	2474	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	808	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGTCAGGGTCGAAGGACTGGG	0.617		NA											False	0	False	7:47933504	0
MUC5B	727897	broad.mit.edu	37	11	1268736	1268736	+	Silent	SNP	A	A	G	rs71469870		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:1268736A>G	ENST00000447027.1	+	31	10693	c.10635A>G	c.(10633-10635)acA>acG	p.T3545T	MUC5B_ENST00000529681.1_Silent_p.T3542T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGCCACAGCCACACCCA	0.687		NA											False	0	True	11:1268736	0
TRAT1	50852	broad.mit.edu	37	3	108572493	108572493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:108572493C>A	ENST00000295756.6	+	6	560	c.330C>A	c.(328-330)taC>taA	p.Y110*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	110					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGTGCTACGCCTCACTTG	0.413		NA											False	0	False	3:108572493	0
SEPT7	989	broad.mit.edu	37	7	35923505	35923505	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:35923505G>A	ENST00000494488.2	+	8	686	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SEPT7_ENST00000435235.1_Missense_Mutation_p.R190H|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H			Q16181	SEPT7_HUMAN	septin 7	243					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						TTATAGGACCGTTTACCTCTT	0.358		NA											False	0	True	7:35923505	0
HTRA1	5654	broad.mit.edu	37	10	124266340	124266340	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:124266340G>A	ENST00000368984.3	+	4	1039	c.911G>A	c.(910-912)gGc>gAc	p.G304D		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	304	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAGCGAGGCGGCAAAGAGCTG	0.617		NA											False	0	False	10:124266340	0
DSCAM	1826	broad.mit.edu	37	21	42080519	42080519	+	Silent	SNP	G	G	A			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42080519G>A	ENST00000400454.1	-	2	699	c.222C>T	c.(220-222)caC>caT	p.H74H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	74	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGGTGGACGTGGCGGATCC	0.542		NA											False	0	False	21:42080519	0
