Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANGEL2	90806	broad.mit.edu	37	1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTCCTGTCCGCATCTTATA	0.363000													9	586					0.00010058	0.000450479	0.00136819	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637000													6	877					0	0	0.00198382	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393494.2_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													8	280					0	0	0.000157383	0	0
LAMA3	3909	broad.mit.edu	37	18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTGCAAGCCAAATTTCCA	0.498000													6	370					0	0	0.00198382	0	0
COA6	388753	broad.mit.edu	37	1	234519507	234519507	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:234519507C>A	ENST00000366612.1	+	2	728	c.183C>A	c.(181-183)ttC>ttA	p.F61L	COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366613.1_Missense_Mutation_p.F107L					cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		ACTTAAAATTCAAAGAAAAAT	0.303000													11	592					0.000978159	0.00411918	0.000978159	1	0
RNF41	10193	broad.mit.edu	37	12	56600246	56600246	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	313					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	690					0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								47	62					0	0	0.00285205	0	0
CTNND2	1501	broad.mit.edu	37	5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAGGGCCCGCAACTCTGGG	0.577000													29	108					0	0	0.00127121	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632000													7	678					0	0	0.00198382	0	0
GRIK2	2898	broad.mit.edu	37	6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000369138.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGATTGTTACCACCATTTTG	0.383000													6	113					0	0	0.000274275	0	0
USP17L2	377630	broad.mit.edu	37	8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	420					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCTCGTCCAACTCGGGTGC	0.567000													23	408					0	0	0.00278032	0	0
MYO9A	4649	broad.mit.edu	37	15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343000													5	300					0	0	0.00116845	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188791	11188791	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11188791G>A	ENST00000382435.4	+	1	395	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	59	DUF6 1.					integral to membrane											CCCCTTTCTCGTATGGCTTAC	0.647000													8	434					0	0	0.000442599	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A	rs150417950		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697000													12	269					0	0	0.000978159	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	650	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCATAAGGCGTCTTGGCCAC	0.537000													261	595					0	0	0.000781405	0	0
MAST2	23139	broad.mit.edu	37	1	46493452	46493452	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:46493452T>C	ENST00000361297.2	+	17	2252	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	MAST2_ENST00000372008.1_Missense_Mutation_p.S542P|MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	657	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTTGGACTGTCCAAAATTGG	0.443000													5	349					0	0	0.00116845	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													6	488					0	0	0.000157383	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161																											TGAAAGTGCAGTTTTTCTCTT	0.363000													4	163					0	0	0.000157383	0	0
ATRNL1	26033	broad.mit.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294000													20	312					0	0	0.00188189	0	0
FARSA	2193	broad.mit.edu	37	19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000588025.1	-	6	843	c.703G>A	c.(703-705)Gag>Aag	p.E235K	FARSA_ENST00000314606.4_Missense_Mutation_p.E195K|FARSA_ENST00000423140.2_Intron			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627000													61	230					0	0	0.000781405	0	0
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000406451.3	+	13	2023	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	625					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527000													5	135					3.59834e-05	0.000163941	0.00116845	1	0
CAPN6	827	broad.mit.edu	37	X	110494274	110494274	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGGTTGTTCACATTGCGGC	0.463000													13	1732					0.00116845	0.00486239	0.00116845	1	0
CYP11B1	0	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642000									Familial Hyperaldosteronism type I				43	522					0	0	0.000781405	0	0
HDLBP	3069	broad.mit.edu	37	2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542000													8	528					0	0	0.000274275	0	0
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637000													25	240					0	0	0.000878237	0	0
CCDC70	83446	broad.mit.edu	37	13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	7						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGCCATTCCGGCTGATAAGG	0.577000													6	241					0.00198382	0.00809612	0.00198382	1	0
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687000													13	207					0	0	0.00136819	0	0
FBN2	2201	broad.mit.edu	37	5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGATCCGTCGGTGTTGATA	0.413000													22	502					0	0	0.00229938	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000265978.4	-	11	2832	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A811V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGGAAGCCGCAAAGTTCTC	0.532000													6	541					0	0	0.00198382	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	203					0	0	0.000442599	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													7	435					0	0	0.000274275	0	0
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537000													7	1110					0	0	0.000602214	0	0
PCDH10	57575	broad.mit.edu	37	4	134073128	134073128	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.4	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	611	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACGACGGCGAGAACGCCC	0.692000													5	213					0	0	0.00198382	0	0
FZD10	11211	broad.mit.edu	37	12	130648711	130648711	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000539839.1	+	1	1708	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	FZD10_ENST00000229030.4_Silent_p.I408I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642000													64	213					0	0	0.000781405	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839935	40839935	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	414	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTGACGCTCAGCGAAGGGC	0.637000													11	392					0.00136819	0.0056713	0.00136819	1	0
MRPS14	63931	broad.mit.edu	37	1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522000													9	537					0	0	0.000274275	0	0
UGDH	7358	broad.mit.edu	37	4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000501493.2_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGTACCCATTTGAGTTTTGC	0.433000													202	464					0	0	0.000781405	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													9	1135					0	0	0.00116845	0	0
NANOS2	339345	broad.mit.edu	37	19	46417571	46417571	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667000													12	150					0	0	0.00244969	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													5	361					0	0	0.00116845	0	0
LYAR	55646	broad.mit.edu	37	4	4276258	4276258	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:4276258C>T	ENST00000343470.4	-	7	908	c.668G>A	c.(667-669)cGc>cAc	p.R223H	LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	223	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTTTTTGCGCTTCTTAGG	0.483000													6	666					0	0	0.00116845	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682000													7	118					0	0	0.000157383	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004797	75004797	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGAGGCGTTAGTAGCTT	0.577000													88	145					0	0	0.000781405	0	0
NDUFA4	4697	broad.mit.edu	37	7	10979646	10979646	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	AACTTACGCTCGGATGCTTCT	0.567000													11	913					0.000157383	0.000693142	0.000157383	1	0
HERC5	51191	broad.mit.edu	37	4	89414249	89414249	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443000													28	336					0	0	0.00209593	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													7	218					0	0	0.000157383	0	0
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448000													8	1079					0	0	0.00116845	0	0
SREK1IP1	285672	broad.mit.edu	37	5	64023957	64023957	+	Silent	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:64023957G>T	ENST00000513458.4	-	4	422	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	85	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttcaatttgattttttctt	0.269000													6	102					5.18039e-06	2.43363e-05	0.000157383	1	0
BSND	7809	broad.mit.edu	37	1	55470697	55470697	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	60						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTGCAGATCACCTTCGTCC	0.577000													61	85					0	0	0.000781405	0	0
SSX9	0	broad.mit.edu	37	X	48161191	48161191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:48161191C>T	ENST00000376909.1	-	5	349	c.287G>A	c.(286-288)cGt>cAt	p.R96H	SSX9_ENST00000407081.2_Missense_Mutation_p.R96H																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCTGAGAACGTTCAACTGC	0.448000													7	833					0	0	0.00198382	0	0
ZNF709	163051	broad.mit.edu	37	19	12575884	12575884	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q284Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373000													142	268					0	0	0.000781405	0	0
UNC79	57578	broad.mit.edu	37	14	94173190	94173190	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:94173190C>A	ENST00000553484.1	+	51	8068	c.7914C>A	c.(7912-7914)ttC>ttA	p.F2638L	UNC79_ENST00000393151.2_Missense_Mutation_p.F2616L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2616						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACTCAGTTCAAAATGGCCC	0.577000													10	298					2.80697e-09	1.361e-08	0.000978159	1	0
SSPO	23145	broad.mit.edu	37	7	149503953	149503953	+	RNA	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCCGGCTGCACCTGCCCC	0.657000													20	74					1.10513e-12	5.45853e-12	0.00229938	1	0
ABCC5	10057	broad.mit.edu	37	3	183663704	183663704	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1146	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCAGTCTGACCGTAAACTGGA	0.448000													7	834					1.12685e-05	5.24705e-05	0.000274275	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	252					0	0	0.000157383	0	0
ASS1	445	broad.mit.edu	37	9	133355188	133355188	+	Splice_Site	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000352480.5_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1						arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617000													16	178					0	0	0.000308642	0	0
PCDH15	65217	broad.mit.edu	37	10	55849770	55849770	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000373965.2	-	17	2386	c.1992T>C	c.(1990-1992)ccT>ccC	p.P664P	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395432.2_Silent_p.P620P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCTCTGAGGATCTCCAT	0.338000										HNSCC(58;0.16)			14	649					0	0	0.000422831	0	0
MCU	90550	broad.mit.edu	37	10	74631317	74631317	+	Silent	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:74631317A>T	ENST00000536019.1	+	6	1138	c.693A>T	c.(691-693)gcA>gcT	p.A231A	MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.A280A	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	280					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAATGTATGCATATTTTGTAA	0.378000													7	340					0	0	0.00198382	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	A	rs144282210	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473000													8	765					0.000274275	0.00119304	0.000274275	1	0
CRISPLD2	83716	broad.mit.edu	37	16	84914128	84914128	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:84914128G>A	ENST00000262424.5	+	13	1467	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414T|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	415	LCCL 2.					extracellular region|transport vesicle		p.A415P(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCATTGTCCGGCACACTGCAA	0.433000													6	681					0	0	0.000157383	0	0
GPC4	2239	broad.mit.edu	37	X	132445300	132445300	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443000													51	732					3.4597e-24	1.7752e-23	0.000781405	1	0
DDB1	1642	broad.mit.edu	37	11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517000								Nucleotide excision repair (NER)					7	834					0.000157383	0.000693142	0.000157383	1	0
SAMD9L	219285	broad.mit.edu	37	7	92764937	92764937	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATATTAGATGACATTGAAT	0.323000													131	286					0	0	0.000781405	0	0
PCDHA2	0	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672000													7	355					0	0	0.000442599	0	0
ZNF350	59348	broad.mit.edu	37	19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCATCATGTTCATGACATGGT	0.363000													8	541					0.000157383	0.000693142	0.000157383	1	0
INA	9118	broad.mit.edu	37	10	105037160	105037160	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741000													18	58					0	0	0.00074312	0	0
NKX2-5	0	broad.mit.edu	37	5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	156					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677000													8	61					0	0	0.000157383	0	0
MRPS27	23107	broad.mit.edu	37	5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413000													6	663					0	0	0.00116845	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTACATTCATATAGTTTT	0.388000													8	596					0	0	0.000274275	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	254					0	0	0.000157383	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83362013	83362013	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343000													24	341					0	0	0.00278032	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													10	261					0	0	0.000978159	0	0
GNB1L	0	broad.mit.edu	37	22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572000													5	70					0	0	0.000157383	0	0
FRG1B	0	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373000													7	323					1.3612e-06	6.51037e-06	0.000308642	1	0
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:21720483G>C	ENST00000358491.4	+	4	1836	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363000													7	397					0	0	0.000442599	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213024	26213024	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498000													26	365					0	0	0.00209593	0	0
ZNF208	7757	broad.mit.edu	37	19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTCCAGAGAGAATTCTATGG	0.408000													23	805					2.39556e-15	1.21154e-14	0.00278032	1	0
RNF43	54894	broad.mit.edu	37	17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000500597.2_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	94						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582000													59	112					2.43698e-19	1.23841e-18	0.000781405	1	0
PCDHA9	0	broad.mit.edu	37	5	140229544	140229544	+	Silent	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000378122.3	+	1	2188	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A488A|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667000													129	407					0	0	0.000781405	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3017								p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483000													8	238					0	0	0.000442599	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058924	11058924	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1_ENST00000462473.1_3'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAAGGTGGCCGACGGGCAGA	0.632000													7	150					0	0	0.00198382	0	0
MKI67	4288	broad.mit.edu	37	10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	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)				CTTGAGCCGTCGCTTGGAGCT	0.502000													17	1032					0	0	0.00136819	0	0
CR1	1378	broad.mit.edu	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408000													10	310					1.3612e-06	6.51037e-06	0.000308642	1	0
ANKRD2	26287	broad.mit.edu	37	10	99338074	99338074	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000370655.1_Silent_p.I89I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGAACCTCATCGAGCTGCGGA	0.662000													39	146					8.01111e-26	4.13061e-25	0.0025221	1	0
OR10G9	219870	broad.mit.edu	37	11	123894641	123894641	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:123894641T>C	ENST00000375024.1	+	1	922	c.922T>C	c.(922-924)Tct>Cct	p.S308P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTAGCACATTCTCAGGGAGA	0.358000													5	327					0	0	0.00116845	0	0
CACNA1D	776	broad.mit.edu	37	3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000288139.3	+	9	1394	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	426					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCAGAAGCTCCGGGAGAAGCA	0.512000													5	188					0	0	0.000602214	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													7	1356					0	0	0.000157383	0	0
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000342274.4	-	9	4269	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	138					0	0	0.000673444	0	0
KSR2	283455	broad.mit.edu	37	12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	25					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACCAGTTCGCACTGCTGT	0.507000													10	633					2.17888e-05	9.97001e-05	0.000442599	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493000													6	611					0	0	0.00198382	0	0
AJ003147.9	0	broad.mit.edu	37	16	3265988	3265988	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:3265988C>T	ENST00000576468.1	+	0	418																											TCGCCGTGTGCCGCCCCTTAC	0.532000													5	281					0	0	0.00198382	0	0
NIPA1	123606	broad.mit.edu	37	15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000437912.2	-	5	1838	c.541G>A	c.(541-543)Gac>Aac	p.D181N	NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612000													8	164					0	0	0.000157383	0	0
GRIK2	2898	broad.mit.edu	37	6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000369138.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTGATTGTTACCACCATTTT	0.383000													6	114					0	0	0.000442599	0	0
LPA	4018	broad.mit.edu	37	6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000447678.1	-	21	3393	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000316300.5_Missense_Mutation_p.E1091D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483000													8	1203					0	0	0.000157383	0	0
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P453L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCATTTCGGAAGACTGGG	0.527000													9	844					0.000442599	0.00190174	0.000442599	1	0
FNDC3A	22862	broad.mit.edu	37	13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328000													6	442					0	0	0.00116845	0	0
ANLN	54443	broad.mit.edu	37	7	36489379	36489379	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATTACTGTCCGACCACAAAG	0.408000													7	565					0.00198382	0.00809612	0.00198382	1	0
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTGTCTCTCCTGCTCAGGC	0.592000									Wilson disease				63	235					3.30712e-30	1.71354e-29	0.000781405	1	0
FAM193A	8603	broad.mit.edu	37	4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGAATGATAAGAACTGGAAT	0.353000													8	373					0	0	0.000157383	0	0
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	A	rs61751369		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	327					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617000													12	445					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000589042.1	-	326	77214	c.76990C>A	c.(76990-76992)Cag>Aag	p.Q25664K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24023	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGAGCTGATCGATTTTC	0.388000													12	887					6.40141e-05	0.000287927	0.000978159	1	0
ZNF536	9745	broad.mit.edu	37	19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGGGAGCAGATGGCTCCAA	0.527000													30	326					5.60225e-13	2.7932e-12	0.00178596	1	0
CSDE1	7812	broad.mit.edu	37	1	115276409	115276409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:115276409C>A	ENST00000438362.2	-	9	1297	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.E261*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	261	CSD 4; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		TCAAAATGTTCAATGCTGATA	0.403000													6	230					0.00198382	0.00809612	0.00198382	1	0
BLM	641	broad.mit.edu	37	15	91303899	91303899	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	856					0	0	0.000157383	0	0
JUP	3728	broad.mit.edu	37	17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39778723C>A	ENST00000540235.1	-	6	1032	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATTGATGTCGGCCTCCACA	0.612000													7	397					0.000274275	0.00119304	0.000274275	1	0
ZHX3	23051	broad.mit.edu	37	20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537000													5	179					0	0	0.00116845	0	0
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423000													5	525					0.000602214	0.0025667	0.000602214	1	0
SS18L1	26039	broad.mit.edu	37	20	60734000	60734000	+	Splice_Site	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:60734000T>C	ENST00000370848.4	+	1	155		c.e1+2		SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron			O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCACGGAGGTCAGATATGTC	0.627000			T	SSX1	synovial sarcoma								6	709					0	0	0.000978159	0	0
HSF5	124535	broad.mit.edu	37	17	56557381	56557381	+	Silent	SNP	G	G	A	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGTATAGGTAACCTCAG	0.478000													135	276					0	0	0.000781405	0	0
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413000													9	865					0	0	0.000673444	0	0
CFHR1	3078	broad.mit.edu	37	1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383000													8	578					2.17888e-05	9.97001e-05	0.000442599	1	0
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662000													16	90					0	0	0.000308642	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													6	468					0	0	0.00198382	0	0
MAP10	54627	broad.mit.edu	37	1	232941470	232941470	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:232941470G>A	ENST00000418460.1	+	1	828	c.701G>A	c.(700-702)gGc>gAc	p.G234D		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TTCGGTCGCGGCAAGTCCTGC	0.716000													4	170					0	0	0.00116845	0	0
MYO1D	4642	broad.mit.edu	37	17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	250	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388000													5	327					0	0	0.00116845	0	0
APRT	353	broad.mit.edu	37	16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716000													4	50					0	0	0.000602214	0	0
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488000													87	281					0	0	0.000781405	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													5	626					0	0	0.00116845	0	0
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527000													102	282					0	0	0.000781405	0	0
CLCNKA	0	broad.mit.edu	37	1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000375692.1	+	9	829	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637000													12	590					0	0	0.00185496	0	0
ACRBP	84519	broad.mit.edu	37	12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	314						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463000													7	364					0	0	0.000157383	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592000													12	370					0	0	0.00244969	0	0
CR1	1378	broad.mit.edu	37	1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488000													9	1373					0	0	0.00116845	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													7	344					0	0	0.000673444	0	0
CCDC178	374864	broad.mit.edu	37	18	30846964	30846964	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:30846964A>G	ENST00000383096.3	-	14	1507	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T					coiled-coil domain containing 178																		TGCCAAAGAAATAGCTGAAAA	0.269000													25	343					0	0	0.000878237	0	0
KMT2D	8085	broad.mit.edu	37	12	49416371	49416371	+	Splice_Site	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:49416371A>C	ENST00000301067.7	-	51	16338		c.e51+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCAGCTCATACCTGCTCTTC	0.547000													11	916					0	0	0.00185496	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													6	100					0	0	0.00116845	0	0
MAP4K3	8491	broad.mit.edu	37	2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313000													7	1206					0	0	0.000602214	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACGGGAATACATCCATGCTGT	0.318000													10	534					0	0	0.000978159	0	0
GPR4	2828	broad.mit.edu	37	19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTCTTGGAGGTGAGTGGGGT	0.652000													13	549					1.5739e-10	7.70189e-10	0.000422831	1	0
GLI3	2737	broad.mit.edu	37	7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAGATGGATCGTAATGGTAA	0.433000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	359					0	0	0.000673444	0	0
COL1A2	1278	broad.mit.edu	37	7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					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)	GGGGCTCCCGGCCTCCCTGGA	0.577000										HNSCC(75;0.22)			25	301					0	0	0.000720815	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	295	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGGATCTTTCATCAAAAGAC	0.383000													6	406					0	0	0.00198382	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856355	93856355	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:93856355A>G	ENST00000513200.3	-	4	640	c.568T>C	c.(568-570)Tta>Cta	p.L190L	KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000329378.7_Silent_p.L190L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	190										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGC	0.318000													22	334					0	0	0.000720815	0	0
SGSM3	27352	broad.mit.edu	37	22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	16					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567000													108	226					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179579856C>T	ENST00000589042.1	-	90	26281	c.26057G>A	c.(26056-26058)gGc>gAc	p.G8686D	TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8369	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7442D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTTCTTGCCGCTCCTAAG	0.443000													6	871					0	0	0.00116845	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													6	243					0	0	0.000274275	0	0
ZNF555	148254	broad.mit.edu	37	19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCATCGCCGCACATCCCTC	0.468000													5	379					0	0	0.00116845	0	0
RPL36	25873	broad.mit.edu	37	19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GACAAACGGGCCCTCAAATTT	0.642000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	383					0	0	0.00198382	0	0
ACSL4	2182	broad.mit.edu	37	X	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000340800.2	-	14	2135	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000469796.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCCATTTTCATCCACAGAATA	0.378000													18	1304					0	0	0.000673444	0	0
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000426342.1	-	9	1847	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	MDGA2_ENST00000399232.2_Silent_p.Y665Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.2_Silent_p.Y596Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443000													13	376					0	0	0.00185496	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													6	192					0	0	0.000274275	0	0
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587000													14	421					0	0	0.00185496	0	0
POLR2A	5430	broad.mit.edu	37	17	7416998	7416998	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572000													112	757					0	0	0.000781405	0	0
FBXO40	51725	broad.mit.edu	37	3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458000													4	133					0	0	0.00024832	0	0
RYR1	6261	broad.mit.edu	37	19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000355481.4	+	99	14573	c.14442G>A	c.(14440-14442)atG>atA	p.M4814I	RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000359596.3_Missense_Mutation_p.M4819I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4819			L -> F (in CCD).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATCGCCATGGGGGTCAAGA	0.597000													5	314					0	0	0.000602214	0	0
RDX	5962	broad.mit.edu	37	11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCGTTTTCGTTCTTGATCC	0.423000													51	576					0	0	0.000781405	0	0
EHHADH	1962	broad.mit.edu	37	3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGCCAAATCGTCCTAATTCA	0.473000													9	366					0	0	0.000442599	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													6	344					0	0	0.000442599	0	0
TRPC7	57113	broad.mit.edu	37	5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612000													22	630					0	0	0.000720815	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215846	130215846	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTTACCACGAACTCGTGG	0.577000													40	733					3.43241e-23	1.75269e-22	0.00222228	1	0
RNF43	54894	broad.mit.edu	37	17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592000													37	284					0	0	0.000814825	0	0
OPRK1	4986	broad.mit.edu	37	8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572000													7	179					0	0	0.000157383	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279224	125279224	+	Splice_Site	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1155_splice	c.e8+1	p.R385_splice		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383000													32	373					3.76114e-14	1.89311e-13	0.000814825	1	0
C10orf53	282966	broad.mit.edu	37	10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				caatctttgtgacctgggttg	0.488000													8	520					0	0	0.000274275	0	0
MRVI1	10335	broad.mit.edu	37	11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000547195.1	-	14	2182	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CATGAGCTCCGCATGGTCCTT	0.517000													8	631					0	0	0.000442599	0	0
GPAT2	150763	broad.mit.edu	37	2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTTTGGGTCCGCACACTCTGG	0.557000													6	583					0	0	0.00116845	0	0
GABRG2	0	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488000													6	318					0	0	0.00116845	0	0
CHD6	0	broad.mit.edu	37	20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537000													5	585					0	0	0.00198382	0	0
KCTD7	154881	broad.mit.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577000													5	250					0	0	0.00116845	0	0
DNER	92737	broad.mit.edu	37	2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATACAGCTCGCGTTGTTTTGG	0.438000													31	392					0	0	0.00178596	0	0
PHIP	55023	broad.mit.edu	37	6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGAATAAGTGGCCGATAA	0.358000													16	173					0	0	0.000958276	0	0
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607000													42	144					0	0	0.00195071	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCGCCAGTGTGAGGGTCTC	0.517000													9	475					0.000442599	0.00190174	0.000442599	1	0
MUC16	94025	broad.mit.edu	37	19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGTTCCTCTGTAGCACTG	0.483000													12	347					0	0	0.000978159	0	0
VBP1	7411	broad.mit.edu	37	X	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGACTTTCTTCGAGATCAATT	0.353000													9	737					0	0	0.000442599	0	0
MYH4	4622	broad.mit.edu	37	17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1669					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1669N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAAGGTCATCTTGGCCTCTG	0.478000													21	167					0	0	0.00152264	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													6	229					0	0	0.000157383	0	0
KIAA1919	91749	broad.mit.edu	37	6	111585122	111585122	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:111585122G>T	ENST00000368847.4	+	3	639	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	96					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTCTATCTTCGGTGTTTCAAT	0.428000													6	415					0.000157383	0.000693142	0.000157383	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000367328.1	+	7	1025	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.S238*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGAAACACTCGCTGCCTCTG	0.498000													6	332					0.00116845	0.00486239	0.00116845	1	0
OR2K2	26248	broad.mit.edu	37	9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	rs137871340	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATTTCACACGTGAAGTGATC	0.517000													9	205					0	0	0.000442599	0	0
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408000													9	713					0.000673444	0.00285876	0.000673444	1	0
F5	2153	broad.mit.edu	37	1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367796.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367797.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433000													8	477					0	0	0.000274275	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTGTGCCGCGATTTGAACCC	0.438000													11	877					1.58986e-06	7.56976e-06	0.000673444	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531).	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCACTTTGTGCCGCTAGTGAA	0.657000			Mis		clear cell ovarian carcinoma								5	370					0	0	0.000602214	0	0
CXCR6	10663	broad.mit.edu	37	3	45988477	45988477	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.I168I|CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502000													8	359					1.26484e-09	6.16102e-09	0.000157383	1	0
SPON1	10418	broad.mit.edu	37	11	14157106	14157106	+	RNA	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:14157106C>A	ENST00000310358.7	+	0	1352							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGAAGAAATTCGACAACAGGT	0.418000													9	246					0.000978159	0.00411918	0.000978159	1	0
NDUFV2	4729	broad.mit.edu	37	18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000400033.1	+	8	758	c.641G>A	c.(640-642)gGc>gAc	p.G214D	NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CTCAAGGCTGGCAAAATCCCA	0.294000													7	892					0	0	0.000602214	0	0
PLEC	5339	broad.mit.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667000													143	311					0	0	0.000781405	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2355738	2355738	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000515312.1_5'UTR	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	34					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCAGCTCCGCGGCCACCTGGT	0.677000													7	37					0	0	0.00198382	0	0
ADAR	103	broad.mit.edu	37	1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGGAGTTGGTCGCCTCCCCA	0.522000													6	326					0	0	0.00198382	0	0
C9orf72	203228	broad.mit.edu	37	9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	20										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGATTTGCCACTTAAAGCAA	0.458000													5	300					0	0	0.000602214	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000													14	43					0	0	0.00188189	0	0
INSRR	3645	broad.mit.edu	37	1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCACCACGCTGCAGTTC	0.627000													69	110					0	0	0.000781405	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													5	293					0	0	0.00116845	0	0
ABCA3	21	broad.mit.edu	37	16	2347398	2347398	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:2347398C>T	ENST00000301732.5	-	17	2895	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	732	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GATGGCGATGCGGTCTCCCAG	0.632000													5	327					0	0	0.000602214	0	0
CNN2	1265	broad.mit.edu	37	19	1037794	1037794	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:1037794G>A	ENST00000263097.4	+	7	1188	c.825G>A	c.(823-825)ccG>ccA	p.P275P	CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Silent_p.P264P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	275					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACTGCCCGCAAGGCACAG	0.672000													6	451					0	0	0.00116845	0	0
FGF13	2258	broad.mit.edu	37	X	137793125	137793125	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCTTGCCTCTTCTGACG	0.597000													13	446					0	0	0.000422831	0	0
COL11A1	1301	broad.mit.edu	37	1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000358392.2	-	40	3397	c.3080G>C	c.(3079-3081)gGt>gCt	p.G1027A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1015A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	Triple-helical region.		G -> R (in STL2).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTGAGATACCTTGAGGACC	0.383000													98	225					0	0	0.000781405	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000421307.1	-	9	825	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	135	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCTCTTCTTCATTCCATGA	0.328000													202	534					0	0	0.000781405	0	0
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567000													22	673					0	0	0.00047179	0	0
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308000													28	154					0	0	0.00106085	0	0
TRIM67	440730	broad.mit.edu	37	1	231339749	231339749	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000444294.3	+	6	2523	c.1665A>G	c.(1663-1665)ggA>ggG	p.G555G	TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366653.5_Silent_p.G557G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637000													37	198					0	0	0.000814825	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			96	237					3.10586e-51	1.61719e-50	0.000781405	1	0
NCOA6	23054	broad.mit.edu	37	20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTCTTCTTCCGAGGGGGTTT	0.358000													7	885					2.17888e-05	9.97001e-05	0.000442599	1	0
LARP4	113251	broad.mit.edu	37	12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S|LARP4_ENST00000347328.5_Intron	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308000													93	214					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000589042.1	-	326	76942	c.76718G>T	c.(76717-76719)cGa>cTa	p.R25573L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23932	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCATATCGGTTGACATT	0.423000													5	347					0.000602214	0.0025667	0.000602214	1	0
TTN	7273	broad.mit.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000589042.1	-	326	70533	c.70309G>A	c.(70309-70311)Ggc>Agc	p.G23437S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21796	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G14372C(1)|p.G20867C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTGGGCCTGGCGTGTCC	0.493000													31	570					0	0	0.0024448	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													8	317					7.48243e-07	3.61138e-06	0.000442599	1	0
TENM2	57451	broad.mit.edu	37	5	167626955	167626955	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:167626955G>A	ENST00000519204.1	+	16	3004	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000518659.1_Silent_p.L1083L|TENM2_ENST00000403607.2_Silent_p.L907L					teneurin transmembrane protein 2																		AGTCACTGCTGAAGATCACCA	0.507000													7	403					0	0	0.00198382	0	0
AHNAK	79026	broad.mit.edu	37	11	62297983	62297983	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:62297983C>A	ENST00000378024.4	-	5	4180	c.3906G>T	c.(3904-3906)ccG>ccT	p.P1302P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTTTCCTTCCGGGCCCTCAA	0.547000													7	947					0.00198382	0.00809612	0.00198382	1	0
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512000													96	314					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994915	140994915	+	Silent	SNP	G	G	A	rs111773662	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:140994915G>A	ENST00000285879.4	+	4	2011	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.597000										HNSCC(15;0.026)			12	1527					0	0	0.000157383	0	0
VRK1	7443	broad.mit.edu	37	14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328000													24	316					0	0	0.000720815	0	0
DNAAF3	352909	broad.mit.edu	37	19	55676757	55676757	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55676757C>T	ENST00000527223.2	-	4	508	c.507G>A	c.(505-507)ccG>ccA	p.P169P	DNAAF3_ENST00000524407.2_Silent_p.P101P|DNAAF3_ENST00000455045.1_Silent_p.P47P|DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	101																	CCATCTTCTCCGGTTCCTCCA	0.532000													13	291					0	0	0.00185496	0	0
FAM47C	442444	broad.mit.edu	37	X	37028585	37028585	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647000													7	434					0	0	0.000442599	0	0
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448000													9	680					2.17888e-05	9.97001e-05	0.000442599	1	0
RP11-206L10.8	0	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													7	64	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													11	182	---	---	---	---					
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)taafs	p.*47fs	LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401													11	490	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													22	230	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								9	646	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													16	1397	---	---	---	---					
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cgg>cg	p.RQ8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552													8	867	---	---	---	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)caa>ca	p.QQ261del	LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													7	159	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:167385016_167385018delCCA	ENST00000367862.5	+	16	2472_2474	c.2237_2239delCCA	c.(2236-2241)tcc>t	p.ST746del	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	734					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													7	756	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													9	1002	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214549710	214549710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:214549710delT	ENST00000366956.5	-	15	2953	c.2759delA	c.(2758-2760)agfs	p.K920fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	920	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATTCGCCTTTTTCTTTGG	0.458													7	948	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215747170	215747171	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:215747170_215747171insT	ENST00000259154.4	+	2	419_420	c.125_126insT	c.(124-126)tttfs	p.F42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCAGATTCTTTTTTTTCCA	0.228													11	1200	---	---	---	---					
ARID4B	51742	broad.mit.edu	37	1	235377267	235377269	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:235377267_235377269delTCT	ENST00000264183.3	-	17	2153_2155	c.1656_1658delAGA	c.(1654-1659)gag>ga	p.EE552del	ARID4B_ENST00000366603.2_In_Frame_Del_p.EE552del|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	552	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			atcttcatcctcttcttcttctt	0.404													16	770	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													7	587	---	---	---	---					
BRE	9577	broad.mit.edu	37	2	28521301	28521301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:28521301delA	ENST00000344773.2	+	11	1169	c.1031delA	c.(1030-1032)cafs	p.Q344fs	BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	344	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCCCAGGCCCAAAAAAATTAT	0.448													7	692	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													7	246	---	---	---	---					
ANKAR	150709	broad.mit.edu	37	2	190554683	190554683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:190554683delT	ENST00000520309.1	+	3	1120	c.1032delT	c.(1030-1032)ccfs	p.P344fs	ANKAR_ENST00000313581.4_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.P273fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000281412.6_Frame_Shift_Del_p.P108fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral to membrane	binding	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289													7	574	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs72096937		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:233712228_233712230delCAG	ENST00000373566.3	+	28	3894_3896	c.3697_3699delCAG	c.(3697-3699)del	p.Q1238del	GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547													14	345	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													9	355	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcfs	p.S856fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	856					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCCCTCATTCAAAAAAAAGAA	0.373													7	275	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)acc>a	p.KT726del	USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													7	519	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													4	9	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													9	180	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													8	338	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													8	269	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													11	229	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361													19	30	---	---	---	---					
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:122881495delA	ENST00000395412.1	+	2	857	c.138delA	c.(136-138)ggfs	p.G46fs	CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363													7	536	---	---	---	---					
PCDHGB4	0	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	19	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													9	1349	---	---	---	---					
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtg>gt	p.VK401del	GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del|GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	401	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645													8	301	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)gafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398													7	994	---	---	---	---					
ZFAND2A	90637	broad.mit.edu	37	7	1195168	1195168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:1195168delT	ENST00000401903.1	-	4	462	c.203delA	c.(202-204)agfs	p.K68fs	ZFAND2A_ENST00000316495.3_Frame_Shift_Del_p.K68fs			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	68						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATCTGGCCCTTTTTTACTGG	0.473													7	865	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													10	142	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													11	75	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)ggfs	p.E2263fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2263					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGGAACTCCTGAAGAAG	0.542													40	379	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)ccc>cc	p.PP293del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	293	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567													8	355	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)ttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378													9	978	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				9	370	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:38285914_38285916delTCA	ENST00000341462.5	-	4	1346_1348	c.405_407delTGA	c.(403-408)gac>ga	p.DD135del	FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						7	174	---	---	---	---					
TP53INP1	0	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													9	291	---	---	---	---					
SPATA6L	55064	broad.mit.edu	37	9	4618865	4618865	+	Splice_Site	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:4618865delT	ENST00000454239.2	-	9	1051	c.807_splice	c.e9+1	p.K269_splice	SPATA6L_ENST00000381895.5_Splice_Site_p.K146_splice|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Splice_Site_p.K211_splice			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	211																	TAAAATTACCTTTACGTTAGC	0.333													24	104	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)gtfs	p.G101fs	PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													9	1128	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													10	924	---	---	---	---					
PGA3	643834	broad.mit.edu	37	11	60971045	60971047	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:60971045_60971047delGCT	ENST00000325558.6	+	1	194_196	c.9_11delGCT	c.(7-12)tgg>tg	p.WL3del		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATGAAGTGGCTGCTGCTGCTG	0.567													7	699	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													14	760	---	---	---	---					
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aafs	p.K354fs	DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	354	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAACAGGGGGAAAAAAAGATA	0.398													7	479	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:46318575_46318577delGGT	ENST00000465950.1	-	2	4104_4106	c.2895_2897delACC	c.(2893-2898)ccc>cc	p.PP969del	SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1284	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													7	380	---	---	---	---					
GLIPR1L2	144321	broad.mit.edu	37	12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:75804255delA	ENST00000550916.1	+	2	323	c.276delA	c.(274-276)ggfs	p.G92fs	GLIPR1L2_ENST00000320460.4_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000441218.1_Frame_Shift_Del_p.G27fs|GLIPR1L2_ENST00000547164.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Frame_Shift_Del_p.G92fs	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCATGGGGAAAAAAATGTT	0.318													9	604	---	---	---	---					
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)ttfs	p.I215fs	SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259													9	400	---	---	---	---					
HCFC2	29915	broad.mit.edu	37	12	104476535	104476535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:104476535delA	ENST00000229330.4	+	7	1023	c.919delA	c.(919-921)aafs	p.K308fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	308					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.N309fs*32(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAGGAAGATAAAAAAAATTC	0.373													8	528	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20121914	20121915	+	RNA	INS	-	-	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:20121914_20121915insA	ENST00000548261.1	+	0	245																											GCCTAAAAAAGAAAAAACAAAA	0.337													8	81	---	---	---	---					
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:35331422_35331423insT	ENST00000360310.1	-	3	786_787	c.219_220insA	c.(217-222)aacaagfs	p.NK73fs	BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000553853.1_5'UTR	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	73	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426													9	781	---	---	---	---					
FERMT2	10979	broad.mit.edu	37	14	53360081	53360082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:53360081_53360082insT	ENST00000395631.2	-	4	671_672	c.455_456insA	c.(454-456)aaafs	p.K152fs	FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.K152K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCTT	0.381													8	601	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25319304	25319304	+	RNA	DEL	G	G	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:25319304delG	ENST00000549804.2	+	0	977				SNORD116-10_ENST00000363791.1_RNA																							TTTTTTTTTTGGAAAGGTGAA	0.393													8	327	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)gafs	p.G279fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	279					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592													9	245	---	---	---	---					
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													7	764	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36091686	36091687	+	Frame_Shift_Ins	INS	-	-	AT	rs138337706		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:36091686_36091687insAT	ENST00000225893.4	-	4	1305_1306	c.944_945insAT	c.(943-945)agafs	p.R315fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.R289fs|HNF1B_ENST00000560016.1_Frame_Shift_Ins_p.R315fs|HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.R289fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	315					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TATAGGCGTCCATGGCCAGCTT	0.599													17	223	---	---	---	---					
CCDC43	124808	broad.mit.edu	37	17	42756253	42756253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:42756253delT	ENST00000315286.8	-	5	654	c.646delA	c.(646-648)ggfs	p.R216fs	CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_3'UTR	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				CTCTGTGTCCTTTTTTTTTCC	0.463													8	173	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435356	56435356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435356delG	ENST00000584437.1	-	8	3736	c.1781delC	c.(1780-1782)ctfs	p.P594fs	RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	594	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCTGATCAGGAGAAGGTGG	0.652													53	413	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141031	66141032	+	RNA	DEL	AC	AC	-	rs76883902	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:66141031_66141032delAC	ENST00000590019.1	-	0	70																											AAAAAAAAAAACATAAGCCAAA	0.337													7	243	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21750331delT	ENST00000319481.3	-	24	2584	c.2378delA	c.(2377-2379)atfs	p.N793fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													9	883	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)ttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													8	50	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			7	241	---	---	---	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)del	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													8	236	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)agfs	p.K635fs	ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488													7	934	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39934126	39934127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39934126_39934127insT	ENST00000342274.4	-	4	834_835	c.472_473insA	c.(472-474)tgcfs	p.C158fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.C158fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	158					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCTACAGCACTTTTTTGTATT	0.535			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						169	319	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													7	73	---	---	---	---					
RP11-357C3.3	0	broad.mit.edu	37	X	62733822	62733823	+	RNA	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:62733822_62733823insT	ENST00000433061.1	-	0	391																											gaacaactttgtgatagcccac	0.406													7	8	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													8	1093	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			9	739	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													10	989	---	---	---	---