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
UNC79	57578	broad.mit.edu	37	14	94069729	94069729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:94069729C>T	ENST00000553484.1	+	26	3873	c.3719C>T	c.(3718-3720)gCg>gTg	p.A1240V	UNC79_ENST00000393151.2_Missense_Mutation_p.A1240V|UNC79_ENST00000256339.4_Missense_Mutation_p.A1063V|UNC79_ENST00000555664.1_Missense_Mutation_p.A1240V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1240						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						TCCAAGAGGGCGCTCTCCCTC	0.493000													13	77					0	0	0.000219431	0	0
LSM1	27257	broad.mit.edu	37	8	38021331	38021331	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38021331G>T	ENST00000311351.4	-	4	654	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	LSM1_ENST00000520755.1_3'UTR|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	87					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ACTTGCTGGAGGGGTGTGTCA	0.458000													8	84					5.18039e-06	4.7474e-05	0.000157383	1	0
ABCB5	340273	broad.mit.edu	37	7	20725391	20725391	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:20725391C>T	ENST00000404938.2	+	16	2594	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	ABCB5_ENST00000258738.6_Silent_p.L203L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	203	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCACTTCCTCTGCACTCTGT	0.398000													6	24					0	0	0.00116845	0	0
ODF1	4956	broad.mit.edu	37	8	103564263	103564263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:103564263G>A	ENST00000285402.3	+	1	464	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	103					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGAGAAGCGAGAGCTTGCC	0.363000													14	101					0	0	0.000219431	0	0
CREM	1390	broad.mit.edu	37	10	35456674	35456674	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:35456674T>G	ENST00000361599.4	+	1	231	c.21T>G	c.(19-21)aaT>aaG	p.N7K	CREM_ENST00000489321.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000395887.3_Missense_Mutation_p.N7K|CREM_ENST00000337656.4_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000484283.1_Missense_Mutation_p.N7K	NM_001267564.1|NM_182771.1|NM_182772.1	NP_001254493.1|NP_877572.1|NP_877573.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	0					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						ATCAGCATAATCTATGTTTCA	0.378000													22	69					0	0	0.00229938	0	0
NT5C3A	51251	broad.mit.edu	37	7	33057128	33057128	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33057128C>G	ENST00000396152.2	-	8	816	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	NT5C3A_ENST00000409467.1_Missense_Mutation_p.E160Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E172Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.E211Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E160Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E172Q	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA									p.E211Q(1)|p.E172Q(1)									ATAACTTCCTCTAGTACATCG	0.378000													9	60					0	0	0.000274275	0	0
KIAA1984	84960	broad.mit.edu	37	9	139700965	139700965	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:139700965C>T	ENST00000338005.6	+	11	1154	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	373										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCTTCAAGTCCGTTGAGAAGA	0.582000													4	34					0	0	0.00024832	0	0
BBS9	27241	broad.mit.edu	37	7	33390925	33390925	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33390925C>G	ENST00000242067.6	+	14	2048	c.1527C>G	c.(1525-1527)tcC>tcG	p.S509S	BBS9_ENST00000355070.2_Silent_p.S509S|BBS9_ENST00000350941.3_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	509					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTCTTATTCCAGACCAACAG	0.323000									Bardet-Biedl syndrome				5	49					0	0	0.000602214	0	0
MROH9	80133	broad.mit.edu	37	1	170961470	170961470	+	Splice_Site	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:170961470G>A	ENST00000367759.4	+	12	1348	c.1194_splice	c.e12+1	p.A398_splice	MROH9_ENST00000367758.3_Splice_Site_p.A398_splice	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGCCTTTGGCGGTAAATAACA	0.413000													6	77					0	0	0.00198382	0	0
PTPRB	5787	broad.mit.edu	37	12	70974931	70974931	+	Silent	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr12:70974931A>G	ENST00000334414.6	-	10	2507	c.2463T>C	c.(2461-2463)agT>agC	p.S821S	PTPRB_ENST00000550358.1_Silent_p.S821S|PTPRB_ENST00000538708.1_Silent_p.S603S|PTPRB_ENST00000550857.1_Silent_p.S513S|PTPRB_ENST00000551525.1_Silent_p.S820S|PTPRB_ENST00000261266.5_Silent_p.S603S|PTPRB_ENST00000451516.2_Silent_p.S513S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	603	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTGGTCTCACTGGAGATGC	0.473000													16	78					0	0	0.000422831	0	0
DIAPH3	81624	broad.mit.edu	37	13	60584694	60584694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr13:60584694G>A	ENST00000400324.4	-	8	1101	c.881C>T	c.(880-882)gCg>gTg	p.A294V	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A248V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A294V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A294V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A283V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A224V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	294	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATGCATACCGCAGAGAGAAG	0.368000													7	23					0	0	0.00198382	0	0
ZNF141	7700	broad.mit.edu	37	4	367159	367159	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:367159C>T	ENST00000240499.7	+	4	1082	c.933C>T	c.(931-933)taC>taT	p.Y311Y	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	311					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGAAACCCTACAAATGTGAAG	0.393000													35	62					0	0	0.000491102	0	0
GRM8	2918	broad.mit.edu	37	7	126249445	126249445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:126249445C>T	ENST00000339582.2	-	8	2273	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.G489S|GRM8_ENST00000358373.3_Missense_Mutation_p.G489S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	489					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTCCAGTGGCCGATGACTTTG	0.378000										HNSCC(24;0.065)			15	93					0	0	0.00074312	0	0
ACE	1636	broad.mit.edu	37	17	61570945	61570945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:61570945G>A	ENST00000577647.1	+	9	1384	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	ACE_ENST00000290863.6_Missense_Mutation_p.V447M|ACE_ENST00000290866.4_Missense_Mutation_p.V1021M|ACE_ENST00000490216.2_Missense_Mutation_p.V447M|ACE_ENST00000428043.1_Missense_Mutation_p.V1021M|ACE_ENST00000413513.3_Missense_Mutation_p.V447M|ACE_ENST00000421982.2_Missense_Mutation_p.V267M			P12821	ACE_HUMAN	angiotensin I converting enzyme	1021	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATTGGGGACGTGCTAGCCCT	0.597000													6	40					0	0	0.00116845	0	0
CYP2J2	1573	broad.mit.edu	37	1	60381634	60381634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:60381634G>A	ENST00000371204.3	-	2	392	c.349C>T	c.(349-351)Cga>Tga	p.R117*		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	117					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATATGTTCTCGCATAGGGGTC	0.428000													15	98					0	0	0.000308642	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	13					0	0	0.000978159	0	0
GABRB3	2562	broad.mit.edu	37	15	26812809	26812809	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr15:26812809T>C	ENST00000541819.2	-	8	1024	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	GABRB3_ENST00000545868.1_Missense_Mutation_p.M167V|GABRB3_ENST00000311550.5_Missense_Mutation_p.M252V|GABRB3_ENST00000400188.3_Missense_Mutation_p.M181V|GABRB3_ENST00000299267.4_Missense_Mutation_p.M252V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	252					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATAGAGGGCATATAAGTCTGA	0.428000													9	30					0	0	0.000274275	0	0
METTL15	196074	broad.mit.edu	37	11	28318421	28318421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:28318421C>T	ENST00000342303.5	+	6	1176	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	METTL15_ENST00000406787.3_Missense_Mutation_p.S226L|METTL15_ENST00000407364.3_Nonsense_Mutation_p.Q241*|METTL15_ENST00000303459.6_Nonsense_Mutation_p.Q241*	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	241							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCAATTGTTCAGGCACGCAG	0.453000													11	68					0	0	0.000978159	0	0
PCNX	22990	broad.mit.edu	37	14	71444780	71444780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:71444780C>T	ENST00000304743.2	+	6	2172	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	PCNX_ENST00000439984.3_Missense_Mutation_p.R576W|PCNX_ENST00000238570.5_Missense_Mutation_p.R576W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	576						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTCAAGCCGGCATAGGGA	0.473000													5	135					0	0	0.000602214	0	0
FGB	2244	broad.mit.edu	37	4	155489613	155489613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:155489613A>T	ENST00000302068.4	+	5	862	c.799A>T	c.(799-801)Aga>Tga	p.R267*	FGB_ENST00000509493.1_Nonsense_Mutation_p.R48*|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	267	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAACCGTATAGAGTATACTG	0.373000													6	80					0	0	0.00198382	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			15	17					0	0	0.000308642	0	0
NR1I2	8856	broad.mit.edu	37	3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:119531666A>G	ENST00000393716.2	+	5	2492	c.653A>G	c.(652-654)gAg>gGg	p.E218G	NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582000													5	69					0	0	0.00198382	0	0
TBX22	50945	broad.mit.edu	37	X	79282319	79282319	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:79282319C>A	ENST00000442340.1	+	6	880	c.390C>A	c.(388-390)tcC>tcA	p.S130S	TBX22_ENST00000373294.5_Silent_p.S250S|TBX22_ENST00000373296.3_Silent_p.S250S|TBX22_ENST00000373291.1_Silent_p.S130S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	250					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAACATTCTCCTTTAAAGAAA	0.478000													22	15					1.10513e-12	1.06024e-11	0.00229938	1	0
BAG4	9530	broad.mit.edu	37	8	38067634	38067634	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067634G>C	ENST00000287322.4	+	5	1268	c.997G>C	c.(997-999)Gat>Cat	p.D333H	BAG4_ENST00000432471.2_Missense_Mutation_p.D297H	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	333					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGATGATTCAGATCTTTTGGA	0.463000													12	121					0	0	0.000978159	0	0
CHST8	64377	broad.mit.edu	37	19	34263279	34263279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:34263279G>A	ENST00000262622.3	+	4	1344	c.586G>A	c.(586-588)Gag>Aag	p.E196K	CHST8_ENST00000438847.2_Missense_Mutation_p.E196K|CHST8_ENST00000434302.1_Missense_Mutation_p.E196K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	196					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTACTGCGAGGTGCCCAA	0.692000													18	46					0	0	0.000958276	0	0
CABLES1	91768	broad.mit.edu	37	18	20833870	20833870	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr18:20833870C>G	ENST00000256925.7	+	9	1731	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Silent_p.L312L|CABLES1_ENST00000400473.2_Silent_p.L250L	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	577					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGTGACCTCAAAAAACACG	0.493000													5	37					0	0	0.000602214	0	0
AGXT2	64902	broad.mit.edu	37	5	35014142	35014142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:35014142G>A	ENST00000231420.6	-	10	1246	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	349					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AATCCCTTTAGCCATGGTGAC	0.527000													48	63					0	0	0.000589545	0	0
TUBD1	51174	broad.mit.edu	37	17	57968230	57968230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:57968230G>C	ENST00000325752.3	-	2	411	c.134C>G	c.(133-135)tCt>tGt	p.S45C	TUBD1_ENST00000394239.3_Missense_Mutation_p.S45C|TUBD1_ENST00000592426.1_Missense_Mutation_p.S45C|TUBD1_ENST00000340993.6_Missense_Mutation_p.S45C|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.S45C|TUBD1_ENST00000346141.6_Missense_Mutation_p.S45C|TUBD1_ENST00000539018.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	45					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTCTTTGCAAGATGCTTGATA	0.468000													36	76					0	0	0.00111076	0	0
BAG4	9530	broad.mit.edu	37	8	38067849	38067849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067849G>C	ENST00000287322.4	+	5	1483	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	BAG4_ENST00000432471.2_Missense_Mutation_p.K368N	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	404	BAG.				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TAGGAAAAAAGACAGACAAAG	0.423000													4	81					0	0	0.00024832	0	0
ZNF676	163223	broad.mit.edu	37	19	22364284	22364284	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:22364284A>T	ENST00000397121.2	-	3	552	c.235T>A	c.(235-237)Tta>Ata	p.L79I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTAAGTGTAAATTCTCATGT	0.338000													5	54					0	0	0.000602214	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	48					0	0	0.00024832	0	0
PLCD1	5333	broad.mit.edu	37	3	38058058	38058058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:38058058C>T	ENST00000463876.1	-	3	768	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	PLCD1_ENST00000334661.4_Missense_Mutation_p.A118T|PLCD1_ENST00000479619.1_5'UTR	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	118					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGTGCTGGGCATCAGCTGGC	0.587000													6	22					0	0	0.00198382	0	0
MADD	8567	broad.mit.edu	37	11	47305994	47305994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:47305994C>A	ENST00000342922.4	+	12	2392	c.2035C>A	c.(2035-2037)Cag>Aag	p.Q679K	MADD_ENST00000395336.3_Missense_Mutation_p.Q679K|MADD_ENST00000406482.1_Missense_Mutation_p.Q679K|MADD_ENST00000402192.2_Missense_Mutation_p.Q679K|MADD_ENST00000407859.3_Missense_Mutation_p.Q679K|MADD_ENST00000395344.3_Missense_Mutation_p.Q679K|MADD_ENST00000311027.5_Missense_Mutation_p.Q679K|MADD_ENST00000349238.3_Missense_Mutation_p.Q679K|MADD_ENST00000402799.1_Missense_Mutation_p.Q679K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	679					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCTGCAGAATCAGAAGGAAGC	0.592000													28	40					8.58068e-18	8.63695e-17	0.00127121	1	0
DUSP5	1847	broad.mit.edu	37	10	112257918	112257918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:112257918G>C	ENST00000369583.3	+	1	323	c.39G>C	c.(37-39)aaG>aaC	p.K13N		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	13					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCTGCGCAAGATGCTCCGCA	0.766000													8	24					0	0	0.000274275	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													4	62					0	0	0.000602214	0	0
CATSPER3	347732	broad.mit.edu	37	5	134303694	134303694	+	Missense_Mutation	SNP	C	C	T	rs140980095	byFrequency	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:134303694C>T	ENST00000282611.6	+	1	99	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	PCBD2_ENST00000512783.1_3'UTR|CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	5					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTCAACACCGTCACCAGCG	0.388000													3	27					0	0	6.4e-05	0	0
BCAM	4059	broad.mit.edu	37	19	45317520	45317520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:45317520C>T	ENST00000391955.1	+	7	940	c.896C>T	c.(895-897)cCg>cTg	p.P299L	BCAM_ENST00000270233.6_Missense_Mutation_p.P299L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	299	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCCCAGCCCGGAGTATACG	0.657000													20	72					0	0	0.00229938	0	0
LRIF1	55791	broad.mit.edu	37	1	111495258	111495258	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:111495258T>G	ENST00000369763.4	-	2	638	c.248A>C	c.(247-249)cAg>cCg	p.Q83P	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GCTGGAAATCTGAGTCTGAAA	0.378000													11	35					0	0	0.000978159	0	0
INADL	10207	broad.mit.edu	37	1	62593753	62593753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:62593753C>T	ENST00000371158.2	+	40	5267	c.5153C>T	c.(5152-5154)aCa>aTa	p.T1718I	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1718	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCCGCACGGACACAGAAGCTT	0.488000													5	37					0	0	0.000602214	0	0
NUMA1	4926	broad.mit.edu	37	11	71715073	71715073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:71715073G>A	ENST00000393695.3	-	26	6527	c.6196C>T	c.(6196-6198)Cgg>Tgg	p.R2066W	NUMA1_ENST00000358965.6_Missense_Mutation_p.R2052W|NUMA1_ENST00000351960.6_Missense_Mutation_p.R930W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2066					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGCTCCCCGCCGCAGAAGG	0.647000			T	RARA	APL								24	136					0	0	0.000720815	0	0
ABCC3	8714	broad.mit.edu	37	17	48745371	48745371	+	Splice_Site	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:48745371G>A	ENST00000285238.8	+	13	1862		c.e13+1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGACTCAGGTAACCCTGGG	0.527000													16	34					0	0	0.000422831	0	0
CADM2	253559	broad.mit.edu	37	3	86028420	86028420	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:86028420C>A	ENST00000407528.2	+	8	1112	c.1050C>A	c.(1048-1050)acC>acA	p.T350T	CADM2_ENST00000405615.2_Silent_p.T352T|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	350	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCAACAACCAGCAGCATCA	0.433000													24	163					2.41591e-17	2.39253e-16	0.000720815	1	0
AFAP1	60312	broad.mit.edu	37	4	7857195	7857195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:7857195G>A	ENST00000420658.1	-	4	604	c.332C>T	c.(331-333)tCa>tTa	p.S111L	AFAP1_ENST00000360265.4_Missense_Mutation_p.S111L|AFAP1_ENST00000358461.2_Missense_Mutation_p.S111L|AFAP1_ENST00000382543.3_Missense_Mutation_p.S111L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	111						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCACTCACTTGATGTGATGTA	0.562000													13	45					0	0	0.000219431	0	0
HPRT1	3251	broad.mit.edu	37	X	133609219	133609219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:133609219G>A	ENST00000298556.7	+	3	302	c.143G>A	c.(142-144)cGt>cAt	p.R48H	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	48			R -> H (in GOUT-HPRT; AD and DD).		adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	p.R48H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	AGGACTGAACGTCTTGCTCGA	0.403000													7	25					0	0	0.000157383	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517000													5	33					0	0	0.00152264	0	0
PAK7	57144	broad.mit.edu	37	20	9546621	9546621	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr20:9546621G>A	ENST00000378429.3	-	6	1947	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	PAK7_ENST00000378423.1_Silent_p.T467T|PAK7_ENST00000353224.5_Silent_p.T467T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	467	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T467T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTGTTTCTCGGTGGCGATGC	0.522000													22	144					0	0	0.00229938	0	0
ADAP2	55803	broad.mit.edu	37	17	29261281	29261281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:29261281G>C	ENST00000330889.3	+	5	811	c.476G>C	c.(475-477)aGa>aCa	p.R159T	ADAP2_ENST00000580525.1_Missense_Mutation_p.R165T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	159	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTTCTGGCAAGAGAAGGCCTC	0.483000													13	11					0	0	0.000308642	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	58					0	0	0.000442599	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									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)		GAAATCTCTTTATAAAACCTT	0.343000													6	69					0	0	0.00198382	0	0
TYK2	7297	broad.mit.edu	37	19	10476499	10476499	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:10476499C>G	ENST00000525621.1	-	7	1186	c.705G>C	c.(703-705)cgG>cgC	p.R235R	TYK2_ENST00000264818.6_Silent_p.R235R|TYK2_ENST00000524462.1_Silent_p.R50R|TYK2_ENST00000529370.1_Silent_p.R235R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	235	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGAAGACGTTCCGAAGGCGCA	0.657000													4	22					0	0	0.00024832	0	0
ZNF112	7665	broad.mit.edu	37	19	44833908	44833908	+	Silent	SNP	G	G	A	rs147887844		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:44833908G>A	ENST00000354340.4	-	4	453	c.402C>T	c.(400-402)ctC>ctT	p.L134L	ZNF112_ENST00000536500.1_Silent_p.L157L|ZNF112_ENST00000337401.4_Silent_p.L140L|CTC-512J12.6_ENST00000588212.1_Silent_p.L139L	NM_013380.3	NP_037512.3			zinc finger protein 112																		AAACCTGGCCGAGGGAATTAC	0.403000													9	46					0	0	0.000274275	0	0
FAT3	120114	broad.mit.edu	37	11	92088363	92088363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:92088363G>T	ENST00000298047.6	+	1	3102	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	FAT3_ENST00000525166.1_Missense_Mutation_p.V879L|FAT3_ENST00000409404.2_Missense_Mutation_p.V1029L|FAT3_ENST00000541502.1_Missense_Mutation_p.V1029L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1029	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGTTGAGGTGGAAGTGGT	0.458000										TCGA Ovarian(4;0.039)			7	38					8.12818e-05	0.000733927	0.00198382	1	0
IFT80	57560	broad.mit.edu	37	3	160025459	160025459	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:160025459G>A	ENST00000326448.7	-	10	1500	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	IFT80_ENST00000496589.1_Silent_p.Y219Y|RP11-432B6.3_ENST00000483754.1_Silent_p.Y527Y|IFT80_ENST00000483465.1_Silent_p.Y219Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	356						cilium axoneme|microtubule basal body		p.Y356*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACGAGAACACGTAACATTGAA	0.368000													8	34					0	0	0.000442599	0	0
ZNF480	147657	broad.mit.edu	37	19	52825750	52825750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:52825750G>A	ENST00000595962.1	+	5	1313	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	ZNF480_ENST00000334564.7_Missense_Mutation_p.R373Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.R339Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R397Q(1)|p.R416Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCTTGCACGACATCGAAGA	0.368000													12	87					0	0	0.000978159	0	0
COL14A1	7373	broad.mit.edu	37	8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:121259909G>A	ENST00000297848.3	+	21	2807	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	COL14A1_ENST00000247781.3_Missense_Mutation_p.R751H|COL14A1_ENST00000309791.4_Missense_Mutation_p.R846H|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACCGGTTGCGCATTACGTGG	0.458000													33	71					0	0	0.00178596	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	84					0	0	0.00024832	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													3	47					0	0	6.4e-05	0	0
TJP2	9414	broad.mit.edu	37	9	71851111	71851111	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:71851111A>T	ENST00000377245.4	+	13	2156	c.1948A>T	c.(1948-1950)Att>Ttt	p.I650F	TJP2_ENST00000453658.2_Missense_Mutation_p.I627F|TJP2_ENST00000348208.4_Missense_Mutation_p.I650F|TJP2_ENST00000535702.1_Missense_Mutation_p.I654F|TJP2_ENST00000539225.1_Missense_Mutation_p.I681F|TJP2_ENST00000265384.7_Missense_Mutation_p.I650F	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	650	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGCTGTGAGGATTGGGAACGA	0.522000													9	63					0	0	0.000673444	0	0
LONP1	9361	broad.mit.edu	37	19	5705940	5705940	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:5705940T>C	ENST00000360614.3	-	8	1367	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	LONP1_ENST00000540670.2_Missense_Mutation_p.K208E|LONP1_ENST00000585374.1_Missense_Mutation_p.K290E|LONP1_ENST00000593119.1_Missense_Mutation_p.K340E|LONP1_ENST00000590729.1_Missense_Mutation_p.K274E	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	404					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTCCTTCTTGATGATCTTT	0.592000													3	103					0	0	0.00024832	0	0
ZNF146	7705	broad.mit.edu	37	19	36727775	36727775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:36727775G>A	ENST00000456324.1	+	3	1882	c.433G>A	c.(433-435)Gag>Aag	p.E145K	ZNF146_ENST00000443387.2_Missense_Mutation_p.E145K|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	145					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					CAACCTTACTGAGCATGAGAA	0.418000													8	84					0	0	0.000157383	0	0
TUBB3	10381	broad.mit.edu	37	16	90001360	90001360	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr16:90001360C>T	ENST00000304984.5	+	3	2580	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TUBB3_ENST00000556922.1_Silent_p.F514F|TUBB3_ENST00000315491.7_Silent_p.F167F|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.F95F			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	167					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGAACACCTTCAGCGTCGTGC	0.627000													19	123					0	0	0.00121646	0	0
ARID1A	8289	broad.mit.edu	37	1	27099013	27099013	+	Silent	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:27099013G>C	ENST00000324856.7	+	13	3800	c.3429G>C	c.(3427-3429)ggG>ggC	p.G1143G	ARID1A_ENST00000457599.2_Silent_p.G1143G|ARID1A_ENST00000374152.2_Silent_p.G760G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1143					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		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)		CTATGCAGGGGCCCCAGACTC	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	48					0	0	0.00136819	0	0
EYA4	2070	broad.mit.edu	37	6	133783832	133783832	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:133783832C>A	ENST00000367895.5	+	9	1118	c.654C>A	c.(652-654)ggC>ggA	p.G218G	EYA4_ENST00000355286.6_Silent_p.G195G|EYA4_ENST00000525849.1_Silent_p.G195G|EYA4_ENST00000430974.2_Silent_p.G164G|EYA4_ENST00000531901.1_Silent_p.G218G|EYA4_ENST00000355167.3_Silent_p.G218G|EYA4_ENST00000431403.2_Silent_p.G218G|EYA4_ENST00000452339.2_Silent_p.G164G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	218					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TACAGAGTGGCTGCCTCAGTT	0.473000													9	44					7.48243e-07	6.96093e-06	0.000442599	1	0
MAP10	54627	broad.mit.edu	37	1	232940983	232940984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:232940983_232940984insA	ENST00000418460.1	+	1	341_342	c.214_215insA	c.(214-216)aaafs	p.K72fs		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AGGTTGGTGGCAAAAAACGGCT	0.450													37	96	---	---	---	---					
LPAL2	80350	broad.mit.edu	37	6	160914198	160914198	+	RNA	DEL	T	T	-	rs72564692		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:160914198delT	ENST00000335388.5	-	0	326					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGATTTTAACTTTTTTTTTTA	0.348													2	4	---	---	---	---					
RUNX1	861	broad.mit.edu	37	21	36171600	36171601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:36171600_36171601insA	ENST00000344691.4	-	5	2460_2461	c.883_884insT	c.(883-885)aacfs	p.N295fs	RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.N322fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.N322fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.N310fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.N231fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	295	Interaction with MYST3.|Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S322fs*160(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGCTTACTTGAGAGTCGACTG	0.520			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	81	---	---	---	---					
