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
RAP1GDS1	5910	broad.mit.edu	37	4	99339851	99339851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:99339851A>C	ENST00000408927.3	+	10	1196	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	361							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTGTAGAAAAACTTATGGATT	0.343000			T	NUP98	T-ALL								19	37					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110585722	110585722	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:110585722G>A	ENST00000369795.3	+	9	920	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S	NM_033088.3	NP_149079.2			striatin interacting protein 1																		CACGCTAGGCGGCTTTGAGGA	0.572000													6	10					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505613	27505613	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:27505613T>G	ENST00000296098.4	+	1	284	c.14T>G	c.(13-15)gTg>gGg	p.V5G	TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	5					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCACAGTGGGTTTCAAG	0.592000													20	103					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70320668	70320668	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:70320668C>T	ENST00000374259.3	+	2	920	c.588C>T	c.(586-588)gcC>gcT	p.A196A	FOXO4_ENST00000341558.3_Silent_p.A141A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	196					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					gccgggccgccTCCATGGATA	0.622000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAGGTGGCCGAAGTCGAGAC	0.652000													10	41					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99279513	99279513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:99279513C>T	ENST00000264968.3	-	4	896	c.533G>A	c.(532-534)gGa>gAa	p.G178E	MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G178E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AATTACCTCTCCTATGAAGAC	0.294000													50	58					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133495949	133495949	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:133495949G>A	ENST00000402696.3	+	16	2414	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	TF_ENST00000264998.3_Silent_p.S516S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	643	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGTTCCGGTCGGAAACCAAGG	0.433000													7	49					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33439994	33439994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:33439994C>T	ENST00000336431.5	-	12	1595	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	517					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTGGGCCAGGAGAAGT	0.617000													8	21					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													5	111					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432875	30432875	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30432875C>T	ENST00000375978.3	-	1	545	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	157					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GATCTGGCAGCTCTGGTGGGA	0.687000													6	19					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161070000	161070000	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:161070000C>T	ENST00000368011.4	+	4	1178	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	346										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTTTGCATCCTGGACTTTAT	0.473000													52	70					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904513	12904513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:12904513C>T	ENST00000380659.3	+	3	1025	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	296					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAAAGTTTTACGTCTACACAG	0.418000													68	59					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013368	142013368	+	RNA	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:142013368A>G	ENST00000390357.3	+	0	252																											GAAACTCTCTATAAATGAAAG	0.478000													29	183					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs143611966	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	35					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741000													3	7					6.4e-05	6.4e-05	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	83	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463000													8	93					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443000													11	92					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968469	87968469	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:87968469A>T	ENST00000369577.3	+	8	5165	c.5122A>T	c.(5122-5124)Acc>Tcc	p.T1708S	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCAAAACCAGTCTTGA	0.328000													3	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								28	42					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													9	224					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144816613	144816613	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:144816613T>C	ENST00000440491.2	+	5	746	c.746T>C	c.(745-747)gTc>gCc	p.V249A	NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GAAGACAAAGTCGACTCAACT	0.443000													84	152					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15870007	15870007	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:15870007G>A	ENST00000452625.2	-	9	925	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000576790.2_Missense_Mutation_p.R273C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCTTGGCGAATTGCCCGT	0.488000			T	CBFB	AML								14	209					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30676404	30676404	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30676404G>A	ENST00000534862.1	+	11	1352	c.989G>A	c.(988-990)gGc>gAc	p.G330D	HCK_ENST00000375852.2_Missense_Mutation_p.G350D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	350	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGATGAGGGCAGCAAGCAG	0.438000													14	35					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGGATTTCGACCACCACC	0.274000													9	29					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:67054666C>T	ENST00000295568.4	+	3	1328	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.C425C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413000													6	205					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907101	29907101	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:29907101C>G	ENST00000308713.5	-	4	1119	c.592G>C	c.(592-594)Ggg>Cgg	p.G198R	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000562159.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	198	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAGGAGCCCCAGGGTGCGG	0.547000													26	41					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													4	25					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37174929	37174929	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:37174929G>T	ENST00000262879.6	+	19	3042	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	920					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTCCTGCCTCTCCTTG	0.418000													18	80					3.32936e-07	3.38881e-07	1	1	0
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:7578400G>C	ENST00000420246.2	-	5	662	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATGGTGGGGGCAGCGCCT	0.647000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	12					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	56					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4165239	4165239	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:4165239C>T	ENST00000294016.3	-	2	743	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	69					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTCCGCCGCCCACTCGC	0.672000													4	22					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756905	71756905	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:71756905C>T	ENST00000318442.5	-	2	909	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R140H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCCAGGCTGCGGTAGAATTG	0.632000													54	88					0	0	1	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496081	153496081	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:153496081T>G	ENST00000369929.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGCATGGTGGTGGTGATG	0.572000													17	21					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754940	6754940	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr19:6754940G>A	ENST00000245908.6	-	5	1152	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGGGGCCGATTCTGGGGG	0.592000													27	136					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132549242	132549242	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:132549242A>G	ENST00000333577.4	+	49	8581	c.8472A>G	c.(8470-8472)aaA>aaG	p.K2824K	EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000389561.2_Silent_p.K2788K|EP400_ENST00000389562.2_Silent_p.K2787K			Q96L91	EP400_HUMAN	E1A binding protein p400	2824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAGCAGAAACTGCAGATGC	0.542000													9	78					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473000													25	35					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57489762	57489762	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:57489762C>T	ENST00000351747.2	-	9	1247	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	356	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCGGCTATTCGTTCCACCAA	0.338000													22	33					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372074	48372074	+	Splice_Site	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:48372074C>T	ENST00000380518.3	-	43	3167	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S	COL2A1_ENST00000337299.6_Splice_Site_p.S932S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1001	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACACTCACCGACGGGCCAG	0.642000													6	20					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10523191	10523191	+	Missense_Mutation	SNP	G	G	A	rs142954972	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:10523191G>A	ENST00000377038.3	-	5	774	c.707C>T	c.(706-708)gCg>gTg	p.A236V	DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	236					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCTCGCCAGCGCAACGTCCGA	0.562000													3	30					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364410	69364410	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:69364410T>G	ENST00000342771.4	+	2	769	c.448T>G	c.(448-450)Tca>Gca	p.S150A	AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A|AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	150										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCACTACAGCTCAGATCGAGA	0.512000													48	96					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	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						CCGGAGCAGGTTGTAGGTCTC	0.657000													4	53					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716615	11716615	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:11716615A>G	ENST00000381486.2	+	5	891	c.591A>G	c.(589-591)gcA>gcG	p.A197A	GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000381483.2_Silent_p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGTAATGCACAAGGGACTC	0.488000													30	65					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26569051	26569051	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:26569051T>C	ENST00000256737.3	+	12	2095	c.1243T>C	c.(1243-1245)Tgc>Cgc	p.C415R	ANO3_ENST00000537978.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTGGTTTGTGCGTTTTCTT	0.368000													29	172					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282578	69282578	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:69282578C>T	ENST00000338352.2	+	1	238	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	68										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGTTCCAAGACGACAGTAGCA	0.547000													3	17					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886878	23886878	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:23886878C>T	ENST00000355349.3	-	31	4349	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1396					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCCTGCAGCCGCTGGGCCAG	0.587000													8	33					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128017	6128017	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:6128017C>T	ENST00000261405.5	-	28	4821	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1523	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAATCACCTCCTCCATGAAC	0.557000													6	29					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252070	226252070	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:226252070G>A	ENST00000366814.3	+	2	139	c.18G>A	c.(16-18)caG>caA	p.Q6Q	H3F3A_ENST00000366813.1_Silent_p.Q6Q|H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTACAAAGCAGACTGCCCGCA	0.488000			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													9	80	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389382	1389382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:1389382delC	ENST00000324803.4	+	1	4043	c.1083delC	c.(1081-1083)tgcfs	p.C361fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	361					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGTGGAGTGCCCGCCTGCTC	0.667													7	253	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784396	135784399	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:135784396_135784399delTTCT	ENST00000367800.4	-	6	1011_1014	c.795_798delAGAA	c.(793-798)aaagaafs	p.KE265fs	AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	265						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TAACTGAAGATTCTTTCTTTTGTT	0.328													11	87	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.30_30P>PSP	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													4	8	---	---	---	---					
TRBV6-8	28599	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G	rs72463875		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49																											AATCCACGCAAGGGCCCTGCCC	0.614													9	110	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79244208	79244208	+	Splice_Site	DEL	T	T	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr9:79244208delT	ENST00000428286.1	-	16	9177		c.e16-2		PRUNE2_ENST00000376718.3_Splice_Site|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000223609.6_Splice_Site			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTTTGAACTAAAAAAAAAA	0.333													2	4	---	---	---	---					
IDI1	3422	broad.mit.edu	37	10	1089303	1089305	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:1089303_1089305delAAG	ENST00000381344.3	-	3	508_510	c.342_344delCTT	c.(340-345)ttctta>tta	p.F114del	IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	57	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GGTGTTGAATAAGAAGACACTAA	0.340													9	73	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													8	107	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49440465	49440466	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:49440465_49440466delCA	ENST00000301067.7	-	15	4343_4344	c.4344_4345delTG	c.(4342-4347)tgtgatfs	p.CD1448fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TAGCTAATATCACAGTCATCAC	0.584													17	67	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													7	169	---	---	---	---					
VSX2	338917	broad.mit.edu	37	14	74727463	74727463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:74727463delC	ENST00000261980.2	+	5	1017	c.927delC	c.(925-927)ctcfs	p.L309fs		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	309					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TTGCGGTGCTCCGGGCCAAAG	0.662													2	4	---	---	---	---					
PI4KA	5297	broad.mit.edu	37	22	21064202	21064202	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr22:21064202delA	ENST00000255882.6	-	53	6253	c.6167delT	c.(6166-6168)ctcfs	p.L2057fs	PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs|PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1999					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTACTTCAAGAGCTTGATTGT	0.552													12	37	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						100	129	---	---	---	---					
