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
AKAP6	9472	broad.mit.edu	37	14	33291281	33291281	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:33291281A>T	ENST00000280979.4	+	13	4432	c.4262A>T	c.(4261-4263)aAg>aTg	p.K1421M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1421					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAAGCATTAAGCTTCCAAAT	0.418000													12	49					0	0	0.105934	0	0
CCDC87	55231	broad.mit.edu	37	11	66358974	66358974	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:66358974C>T	ENST00000333861.3	-	1	1580	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	505										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGTAAGTGGTCAGAAGAGACA	0.458000													10	145					0	0	0.069234	0	0
NPHP3	27031	broad.mit.edu	37	3	132434047	132434047	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:132434047G>A	ENST00000326682.8	-	5	915	c.839C>T	c.(838-840)gCt>gTt	p.A280V	NPHP3_ENST00000337331.5_Missense_Mutation_p.A280V|NPHP3_ENST00000476742.1_5'UTR			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	280					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTAGCTACAGCAATATCCCA	0.333000													5	65					0	0	0.184627	0	0
PCDH10	57575	broad.mit.edu	37	4	134084247	134084247	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:134084247C>A	ENST00000264360.4	+	4	3739	c.2913C>A	c.(2911-2913)agC>agA	p.S971R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	971					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTATCGCAGCAATCTGCATG	0.537000													25	73					0.000375601	0.000384837	0.076483	1	0
CLEC16A	23274	broad.mit.edu	37	16	11272339	11272339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:11272339C>G	ENST00000409790.1	+	24	3184	c.2954C>G	c.(2953-2955)cCt>cGt	p.P985R	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P72R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	985								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCTCGTCCCTGCCCGGCAG	0.637000													8	117					0	0	0.047766	0	0
ZNF677	342926	broad.mit.edu	37	19	53741643	53741643	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:53741643C>G	ENST00000333952.4	-	5	502	c.337G>C	c.(337-339)Gat>Cat	p.D113H	ZNF677_ENST00000598513.1_Missense_Mutation_p.D113H			Q86XU0	ZN677_HUMAN	zinc finger protein 677	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTTTTACATCATAGTCCCAC	0.348000													4	103					0	0	0.184627	0	0
GPR125	166647	broad.mit.edu	37	4	22394281	22394281	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:22394281G>A	ENST00000334304.5	-	17	2783	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	838					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATAGTACTGTGGCAAGGGTGG	0.388000													4	81					0	0	0.184627	0	0
GPR34	2857	broad.mit.edu	37	X	41555242	41555242	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:41555242A>G	ENST00000378142.4	+	3	640	c.356A>G	c.(355-357)aAg>aGg	p.K119R	CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.K119R|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	119						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCAAAACAAGTGGACACTA	0.378000													17	358					0	0	0.234183	0	0
AMER1	139285	broad.mit.edu	37	X	63412533	63412533	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:63412533G>A	ENST00000330258.3	-	2	906	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AMER1_ENST00000403336.1_Missense_Mutation_p.P212S|AMER1_ENST00000374869.3_Missense_Mutation_p.P212S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGCACCTGAGGGGCTGAGCTC	0.592000													6	113					0	0	0.217242	0	0
TTC3	7267	broad.mit.edu	37	21	38533142	38533142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr21:38533142G>T	ENST00000399017.2	+	30	5825	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	TTC3_ENST00000354749.2_Missense_Mutation_p.K1026N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.K1026N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1026	Arg/Lys-rich (basic).|Poly-Lys.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCAAGAAAAAGAAGCCAAAGG	0.318000													7	47					1.06961e-07	1.17282e-07	0.038147	1	0
MEGF6	1953	broad.mit.edu	37	1	3428235	3428235	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:3428235G>A	ENST00000356575.4	-	9	1219	c.993C>T	c.(991-993)atC>atT	p.I331I	MEGF6_ENST00000294599.4_Silent_p.I226I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	331						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGTTCACGATTTCCATCT	0.627000													6	60					0	0	0.038147	0	0
GPR64	10149	broad.mit.edu	37	X	19051731	19051731	+	Splice_Site	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:19051731C>T	ENST00000379878.3	-	7	497	c.256_splice	c.e7+1	p.G86_splice	GPR64_ENST00000357544.3_Intron|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379873.2_Splice_Site_p.G102_splice|GPR64_ENST00000357991.3_Splice_Site_p.G99_splice|GPR64_ENST00000379876.1_Splice_Site_p.G78_splice|GPR64_ENST00000356606.4_Intron|GPR64_ENST00000354791.3_Splice_Site_p.G86_splice|GPR64_ENST00000379869.3_Splice_Site_p.G102_splice|GPR64_ENST00000360279.4_Intron	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	102					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAGTCATACCTGATGCATTG	0.239000													15	45					0	0	0.160694	0	0
AP4B1	10717	broad.mit.edu	37	1	114447405	114447405	+	Translation_Start_Site	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:114447405G>C	ENST00000369569.1	-	0	215				AP4B1_ENST00000256658.4_De_novo_Start_OutOfFrame|AP4B1_ENST00000369567.1_De_novo_Start_OutOfFrame|AP4B1_ENST00000369566.3_De_novo_Start_OutOfFrame	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTCGTCCTGATGTGGGAGC	0.577000													7	47					0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:7578392C>T	ENST00000420246.2	-	5	670	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TP53_ENST00000269305.4_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(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)		GAGCAGCGCTCATGGTGGGGG	0.637000		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)			21	23					0	0	0.234183	0	0
F8	2157	broad.mit.edu	37	X	154133104	154133104	+	Nonsense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:154133104A>C	ENST00000360256.4	-	16	5768	c.5568T>G	c.(5566-5568)taT>taG	p.Y1856*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1856	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAGAGAAATAAGCCCAGG	0.368000													13	123					0	0	0.105934	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257099	140257099	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:140257099G>A	ENST00000398631.2	+	1	2042	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTCGTCGCGGGCCTCAGTG	0.652000													3	47					0	0	0.150653	0	0
UFD1L	7353	broad.mit.edu	37	22	19455447	19455447	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:19455447T>C	ENST00000263202.9	-	5	500	c.371A>G	c.(370-372)aAa>aGa	p.K124R	UFD1L_ENST00000399523.1_Missense_Mutation_p.K124R|UFD1L_ENST00000360834.4_Missense_Mutation_p.K113R|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	124					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					AGGTTGGAATTTGGAGTAGGT	0.498000													8	110					0	0	0.058154	0	0
NEFH	4744	broad.mit.edu	37	22	29879474	29879474	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:29879474C>G	ENST00000310624.6	+	2	1027	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	332	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GACCACAGAGCTGGAGGCACT	0.622000													21	71					0	0	0.219247	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900299	101900299	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:101900299G>A	ENST00000374994.4	+	4	850	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TGFBR1_ENST00000552516.1_Missense_Mutation_p.E249K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E168K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E176K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	245	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTGGTTCCGTGAGGCAGAGAT	0.413000													13	58					0	0	0.093190	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179292299	179292299	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:179292299T>C	ENST00000356834.3	-	21	3064	c.3027A>G	c.(3025-3027)aaA>aaG	p.K1009K	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Silent_p.K992K|TBC1D9B_ENST00000444477.2_Silent_p.K150K|TBC1D9B_ENST00000519746.1_Silent_p.K168K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1009						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTCTTTCTCCTTGG	0.507000													14	92					0	0	0.105934	0	0
PIGT	51604	broad.mit.edu	37	20	44052918	44052918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44052918C>T	ENST00000279036.6	+	10	1377	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	PIGT_ENST00000341555.5_Nonsense_Mutation_p.Q239*|PIGT_ENST00000535404.1_Nonsense_Mutation_p.Q278*|PIGT_ENST00000543458.2_Nonsense_Mutation_p.Q377*|PIGT_ENST00000545755.1_Nonsense_Mutation_p.Q171*|PIGT_ENST00000279035.9_Nonsense_Mutation_p.Q331*|PIGT_ENST00000372689.5_Nonsense_Mutation_p.Q366*	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	433					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GATGCTGATTCAGCTGCCGGC	0.572000													5	70					0	0	0.184627	0	0
CD1E	913	broad.mit.edu	37	1	158324373	158324373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158324373G>T	ENST00000368160.3	+	2	265	c.265G>T	c.(265-267)Gag>Tag	p.E89*	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.E87*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368156.1_Nonsense_Mutation_p.E89*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.E89*	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	89					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGCAAGCAGGAGCTGAAAAA	0.483000													5	37					1.024e-07	1.13274e-07	0.184627	1	0
BCORL1	63035	broad.mit.edu	37	X	129159037	129159037	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:129159037A>G	ENST00000540052.1	+	6	3805	c.3761A>G	c.(3760-3762)gAa>gGa	p.E1254G	BCORL1_ENST00000303743.5_Missense_Mutation_p.E1254G|BCORL1_ENST00000218147.7_Missense_Mutation_p.E1254G|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1254					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCACAGAAGAAGAAGAGGAG	0.557000													20	241					0	0	0.189662	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376205	50376205	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:50376205A>C	ENST00000376020.2	-	4	2893	c.2868T>G	c.(2866-2868)acT>acG	p.T956T	SHROOM4_ENST00000289292.7_Silent_p.T956T|SHROOM4_ENST00000460112.3_Silent_p.T840T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	956					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGGTTTCCAAGTGTTGCCAG	0.498000													21	26					0	0	0.076483	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741325	81741325	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:81741325C>G	ENST00000550584.2	-	17	2514	c.2219G>C	c.(2218-2220)gGa>gCa	p.G740A	PPFIA2_ENST00000552948.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G722A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G307A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G666A|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G641A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G722A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G587A|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G740A	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	666										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCATGACTCCCATCCGATC	0.488000													9	103					0	0	0.058154	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479158	55479158	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:55479158G>C	ENST00000342972.1	+	1	621	c.351G>C	c.(349-351)aaG>aaC	p.K117N		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	117	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TGCTGGGGAAGTTAGGAATGC	0.498000													4	102					0	0	0.150653	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057380	5057380	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:5057380C>T	ENST00000251170.7	+	13	1645	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	489						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGGGCTGGTCCCCAAGTCCCT	0.617000													3	32					0	0	0.115264	0	0
FANCD2	2177	broad.mit.edu	37	3	10103867	10103867	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:10103867C>G	ENST00000287647.3	+	20	1892	c.1799C>G	c.(1798-1800)gCc>gGc	p.A600G	FANCD2_ENST00000383807.1_Missense_Mutation_p.A600G|FANCD2_ENST00000383806.1_Missense_Mutation_p.A600G|FANCD2_ENST00000419585.1_Missense_Mutation_p.A600G	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	600					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAAGAGAGAGCCAACCTGAGC	0.353000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	21					0	0	0.069234	0	0
RALY	22913	broad.mit.edu	37	20	32659995	32659995	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659995G>A	ENST00000375114.3	+	3	693	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000246194.3_Missense_Mutation_p.E39K	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	39	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ATCAGATGTGGAGACCATCTT	0.507000													6	70					0	0	0.217242	0	0
EYA1	2138	broad.mit.edu	37	8	72267066	72267066	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:72267066G>A	ENST00000340726.3	-	3	714	c.75C>T	c.(73-75)ctC>ctT	p.L25L	EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Silent_p.L25L|EYA1_ENST00000303824.7_Silent_p.L25L|EYA1_ENST00000388743.2_Silent_p.L25L|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388742.4_Silent_p.L25L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	25					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAGAGTTACCGAGTTTGGGGC	0.463000													28	134					0	0	0.108266	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000													3	47					0	0	0.115264	0	0
AGXT	189	broad.mit.edu	37	2	241815373	241815373	+	Silent	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:241815373C>G	ENST00000307503.3	+	8	1185	c.798C>G	c.(796-798)gtC>gtG	p.V266V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	266					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATCCCCGTCATCAGCCTGT	0.617000													7	30					0	0	0.058154	0	0
KRT14	3861	broad.mit.edu	37	17	39742987	39742987	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:39742987C>T	ENST00000167586.6	-	1	186	c.100G>A	c.(100-102)Gtc>Atc	p.V34I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	34	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCGGCCAGGACGGAGGAGATG	0.726000													4	5					0	0	0.184627	0	0
ATM	472	broad.mit.edu	37	11	108139190	108139190	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:108139190T>G	ENST00000278616.4	+	18	3077	c.2692T>G	c.(2692-2694)Tta>Gta	p.L898V	ATM_ENST00000452508.2_Missense_Mutation_p.L898V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	898					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCTACTTTTCTTAGACATGCT	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	114					0	0	0.189662	0	0
HPS3	84343	broad.mit.edu	37	3	148858052	148858052	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:148858052G>C	ENST00000296051.2	+	2	619	c.479G>C	c.(478-480)aGt>aCt	p.S160T	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	160						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCTTATTTAGTTTGAAGTAC	0.378000									Hermansky-Pudlak syndrome				42	47					0	0	0.124865	0	0
SIN3A	25942	broad.mit.edu	37	15	75714964	75714964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr15:75714964C>T	ENST00000567289.1	-	3	664	c.390G>A	c.(388-390)tgG>tgA	p.W130*	SIN3A_ENST00000394949.4_Intron|SIN3A_ENST00000394947.3_Intron|SIN3A_ENST00000360439.4_Intron			Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	517	Interaction with HCFC1.|PAH 1.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATTTTTTGACCCAAGAAAAAG	0.458000													8	52					0	0	0.038147	0	0
SP1	6667	broad.mit.edu	37	12	53776134	53776134	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:53776134G>C	ENST00000426431.2	+	3	442	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	SP1_ENST00000327443.4_Missense_Mutation_p.E135Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	135	Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATGGCAGTGAGTCTTCCAA	0.542000													3	50					0	0	0.115264	0	0
DSCR9	257203	broad.mit.edu	37	21	38593804	38593804	+	RNA	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr21:38593804G>T	ENST00000454482.2	+	0	1411				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						CCCAGTTTTTGAAGAAGGTGA	0.527000													9	169					3.86212e-05	4.02304e-05	0.069234	1	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					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	p.S1335S(3)		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)		CATGCCGGGCCGACTGCAGTG	0.662000													3	37					0	0	0.217242	0	0
ADGRG6	57211	broad.mit.edu	37	6	142732479	142732479	+	Silent	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:142732479A>T	ENST00000230173.6	+	18	2948	c.2472A>T	c.(2470-2472)gcA>gcT	p.A824A	GPR126_ENST00000367608.2_Silent_p.A796A|GPR126_ENST00000367609.3_Silent_p.A824A|GPR126_ENST00000296932.8_Silent_p.A796A	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	824	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GATGTGTTGCACACAGAGATT	0.428000													19	126					0	0	0.219247	0	0
TTN	7273	broad.mit.edu	37	2	179611703	179611703	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:179611703C>T	ENST00000360870.5	-	46	15646	c.15424G>A	c.(15424-15426)Ggt>Agt	p.G5142S	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1043	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTGTACCGTCTTCCCTT	0.438000													10	119					0	0	0.058154	0	0
CES3	23491	broad.mit.edu	37	16	66998528	66998528	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:66998528C>T	ENST00000303334.4	+	6	788	c.717C>T	c.(715-717)gtC>gtT	p.V239V	CES3_ENST00000394037.1_Silent_p.V239V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	239						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCACCCAGGTCCTGTCCCCAG	0.632000													13	75					0	0	0.132662	0	0
TRAV10	28676	broad.mit.edu	37	14	22294191	22294191	+	RNA	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:22294191A>C	ENST00000390432.2	+	0	331																											TCTGCACATCACAGCCTCCCA	0.507000													13	65					0	0	0.105934	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783217	9783217	+	Missense_Mutation	SNP	C	C	T	rs140820694		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:9783217C>T	ENST00000536656.1	+	20	2741	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845C|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821C			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCGGGGACCGCACAGGCCT	0.602000													10	239					0	0	0.069234	0	0
CLDN22	53842	broad.mit.edu	37	4	184241270	184241270	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:184241270C>G	ENST00000323319.5	-	1	657	c.102G>C	c.(100-102)aaG>aaC	p.K34N	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	34					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTTGAGGTTCTTCCAGTGTG	0.443000													7	122					0	0	0.029380	0	0
RALY	22913	broad.mit.edu	37	20	32659989	32659989	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659989G>C	ENST00000375114.3	+	3	687	c.109G>C	c.(109-111)Gat>Cat	p.D37H	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000246194.3_Missense_Mutation_p.D37H	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	37	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GAAGAAATCAGATGTGGAGAC	0.507000													5	74					0	0	0.184627	0	0
EIF2S2	8894	broad.mit.edu	37	20	32684606	32684606	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32684606C>T	ENST00000374980.2	-	6	761	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	180						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACACTCGATTCAGCAGCTATA	0.403000													7	183					0	0	0.069234	0	0
RBBP6	5930	broad.mit.edu	37	16	24580583	24580583	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:24580583G>A	ENST00000319715.4	+	17	3004	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E824K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	858					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCAAATAGAGAGAACTTTTC	0.428000													11	97					0	0	0.119110	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554445	85554445	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:85554445G>A	ENST00000377386.3	-	2	872	c.410C>T	c.(409-411)aCt>aTt	p.T137I	TGOLN2_ENST00000398263.2_Missense_Mutation_p.T137I|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.T137I|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T137I|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T137I			O43493	TGON2_HUMAN	trans-golgi network protein 2	137	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CGATTTGCCAGTGCTGTCTTT	0.577000													17	575					0	0	0.146539	0	0
FPR1	2357	broad.mit.edu	37	19	52249869	52249869	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:52249869C>T	ENST00000595042.1	-	3	520	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	FPR1_ENST00000304748.4_Missense_Mutation_p.V127I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	127					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V127I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGATGCAGGACGCAAACACAG	0.557000													19	58					0	0	0.175082	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447365	158447365	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:158447365C>G	ENST00000409339.3	-	22	2781	c.2668G>C	c.(2668-2670)Gat>Cat	p.D890H	NCAPG2_ENST00000449727.2_Missense_Mutation_p.D890H|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D682H|NCAPG2_ENST00000541468.1_Missense_Mutation_p.D391H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D890H|NCAPG2_ENST00000409423.1_Missense_Mutation_p.D890H			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	890					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATAACAACATCTTTACACACA	0.438000													18	104					0	0	0.175082	0	0
ABCA5	23461	broad.mit.edu	37	17	67280103	67280103	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:67280103C>A	ENST00000392676.3	-	18	2447	c.2383G>T	c.(2383-2385)Gac>Tac	p.D795Y	ABCA5_ENST00000588877.1_Missense_Mutation_p.D795Y|ABCA5_ENST00000392677.2_Missense_Mutation_p.D795Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	795					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCTGCTTGGTCAATTTCTGCT	0.313000													10	37					2.17888e-05	2.32786e-05	0.058154	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835688	12835688	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:12835688G>A	ENST00000357726.4	+	2	317	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	97										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGCGGTGGAAACTT	0.517000													15	295					0	0	0.146539	0	0
F13A1	2162	broad.mit.edu	37	6	6145903	6145903	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:6145903T>C	ENST00000264870.3	-	15	2413	c.2148A>G	c.(2146-2148)agA>agG	p.R716R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	716					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CATACACATGTCTCAGGGAGT	0.552000													13	69					0	0	0.119110	0	0
TBATA	219793	broad.mit.edu	37	10	72539466	72539466	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:72539466C>A	ENST00000299290.1	-	5	699	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	TBATA_ENST00000456372.2_Missense_Mutation_p.D104Y|TBATA_ENST00000545575.1_Missense_Mutation_p.D94Y	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GCTGGAAAATCCCTGACGACA	0.552000													6	36					6.5536e-12	7.31429e-12	0.038147	1	0
TSTD2	158427	broad.mit.edu	37	9	100388080	100388080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:100388080G>C	ENST00000341170.4	-	3	747	c.365C>G	c.(364-366)tCa>tGa	p.S122*	TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	122										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAGACTCTTTGAGGTGCTCAA	0.433000													6	102					0	0	0.029380	0	0
FAM206A	54942	broad.mit.edu	37	9	111701692	111701692	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:111701692G>A	ENST00000322940.6	+	5	672	c.366G>A	c.(364-366)gtG>gtA	p.V122V	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	CI006_HUMAN	family with sequence similarity 206, member A	122					glycine catabolic process	glycine cleavage complex											TGATGGAAGTGAATGAAAACA	0.274000													3	19					0	0	0.115264	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	75					0	0	0.235728	0	0
ZNF423	23090	broad.mit.edu	37	16	49669988	49669988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:49669988G>T	ENST00000561648.1	-	4	3128	c.3075C>A	c.(3073-3075)tgC>tgA	p.C1025*	ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C908*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C1025*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C965*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C908*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1025					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTCTGCATGCAGACCACAC	0.602000													12	25					1.08611e-07	1.18055e-07	0.080935	1	0
KIAA0556	23247	broad.mit.edu	37	16	27640151	27640151	+	Splice_Site	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:27640151G>T	ENST00000261588.4	+	4	329	c.310_splice	c.e4+1	p.D104_splice		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	104										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGACACACGGTGAGCACAG	0.522000													12	103					0.000151284	0.000156286	0.105934	1	0
OR4C11	219429	broad.mit.edu	37	11	55371540	55371540	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55371540A>T	ENST00000302231.4	-	1	334	c.310T>A	c.(310-312)Tta>Ata	p.L104I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGCCAAATAAATGTAGTGCA	0.433000													34	336					0	0	0.163468	0	0
NOG	9241	broad.mit.edu	37	17	54672168	54672168	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:54672168C>T	ENST00000332822.4	+	1	1109	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	195					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					TGCAAGCCGTCCAAGTCCGTG	0.667000													4	22					0	0	0.184627	0	0
RORB	6096	broad.mit.edu	37	9	77277459	77277459	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:77277459G>C	ENST00000376896.2	+	6	1441	c.829G>C	c.(829-831)Gca>Cca	p.A277P	RORB_ENST00000396204.2_Missense_Mutation_p.A288P	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	288	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGTGGAGTTTGCAAAGCGGAT	0.448000													22	75					0	0	0.069288	0	0
RB1CC1	9821	broad.mit.edu	37	8	53588991	53588991	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:53588991C>T	ENST00000025008.5	-	6	1033	c.510G>A	c.(508-510)aaG>aaA	p.K170K	RB1CC1_ENST00000539297.1_Silent_p.K170K|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.K170K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	170					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TACTTTCAAACTTGAAAAGTA	0.343000													6	43					0	0	0.029380	0	0
POLA2	23649	broad.mit.edu	37	11	65064645	65064645	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064645G>A	ENST00000265465.3	+	18	2233	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	568					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGGCAGGTGGGAGGCACCTT	0.617000													30	88					0	0	0.153744	0	0
PTPRT	11122	broad.mit.edu	37	20	40747110	40747110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:40747110C>T	ENST00000373198.3	-	22	3216	c.2981G>A	c.(2980-2982)tGg>tAg	p.W994*	PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W981*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W971*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W975*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W972*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	972	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATCATTCTCCAAAAGTCCTT	0.547000													5	98					0	0	0.217242	0	0
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577000													6	41					0	0	0.080935	0	0
VWA5A	4013	broad.mit.edu	37	11	124013245	124013245	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:124013245G>T	ENST00000456829.2	+	17	2371	c.2120G>T	c.(2119-2121)aGt>aTt	p.S707I	VWA5A_ENST00000392748.1_Missense_Mutation_p.S707I|VWA5A_ENST00000360334.4_3'UTR	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	707										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTAGGTATGAGTTTGGAAGAA	0.418000													5	96					3.59834e-05	3.77976e-05	0.217242	1	0
HR	55806	broad.mit.edu	37	8	21977361	21977361	+	Silent	SNP	G	G	A	rs144482432	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:21977361G>A	ENST00000381418.4	-	14	4369	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C	HR_ENST00000312841.8_Silent_p.C963C	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	963	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CATGGAGGGCGCAGTACTCCG	0.637000													3	45					0	0	0.184627	0	0
OR10X1	128367	broad.mit.edu	37	1	158549495	158549495	+	Silent	SNP	A	A	C	rs144602754		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158549495A>C	ENST00000368150.1	-	1	194	c.195T>G	c.(193-195)acT>acG	p.T65T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGTCCACCCAAGTTAGACCCA	0.483000													6	81					0	0	0.217242	0	0
HOOK3	84376	broad.mit.edu	37	8	42828457	42828457	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:42828457C>G	ENST00000307602.4	+	12	1348	c.1148C>G	c.(1147-1149)tCc>tGc	p.S383C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	383					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AACAGATTATCCGAAGAATCA	0.294000			T	RET	papillary thyroid								8	51					0	0	0.047766	0	0
LCT	3938	broad.mit.edu	37	2	136590758	136590758	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:136590758C>T	ENST00000264162.2	-	2	653	c.643G>A	c.(643-645)Gga>Aga	p.G215R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	215	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGTTTTCCGCCTGAAACC	0.532000													6	104					0	0	0.217242	0	0
UBR5	51366	broad.mit.edu	37	8	103287796	103287796	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:103287796C>T	ENST00000520539.1	-	47	7288	c.6682G>A	c.(6682-6684)Gaa>Aaa	p.E2228K	UBR5_ENST00000521922.1_Missense_Mutation_p.E2222K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2228K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2228					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTTCCATTTCTCTGCGGAAT	0.313000													7	32					0	0	0.038147	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682889	11682889	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:11682889G>T	ENST00000337414.4	-	1	932	c.60C>A	c.(58-60)agC>agA	p.S20R	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S20R|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S20R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	20					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGAGGCCGCGCTACTTGAAG	0.711000													7	8					0.0477658	0.0485424	0.047766	1	0
DKC1	1736	broad.mit.edu	37	X	153994220	153994220	+	Silent	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:153994220A>G	ENST00000369550.5	+	4	420	c.210A>G	c.(208-210)acA>acG	p.T70T		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	70					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	p.T70T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACACTATACACCTCTTGCAT	0.388000									Congenital Dyskeratosis				8	177					0	0	0.038147	0	0
OR2T10	127069	broad.mit.edu	37	1	248756568	248756568	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:248756568A>C	ENST00000330500.2	-	1	532	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCTGCAGAAGGGGAAGCTC	0.507000													10	140					0	0	0.069234	0	0
ZNF664	144348	broad.mit.edu	37	12	124497263	124497263	+	Missense_Mutation	SNP	G	G	C	rs146116095		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:124497263G>C	ENST00000539644.1	+	6	2402	c.572G>C	c.(571-573)aGa>aCa	p.R191T	ZNF664_ENST00000337815.4_Missense_Mutation_p.R191T|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.R191T|ZNF664_ENST00000392404.3_Missense_Mutation_p.R191T			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCCACCAGAGAGTCCACACT	0.512000													18	87					0	0	0.189662	0	0
POLA2	23649	broad.mit.edu	37	11	65064634	65064634	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064634A>C	ENST00000265465.3	+	18	2222	c.1691A>C	c.(1690-1692)aAa>aCa	p.K564T	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	564					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CGCCTTACCAAAGGGCAGGTG	0.617000													32	100					0	0	0.163468	0	0
IFI16	3428	broad.mit.edu	37	1	159023414	159023414	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:159023414A>C	ENST00000295809.7	+	11	2432	c.2177A>C	c.(2176-2178)aAc>aCc	p.N726T	IFI16_ENST00000359709.3_Missense_Mutation_p.N670T|IFI16_ENST00000340979.6_Missense_Mutation_p.N614T|IFI16_ENST00000368131.4_Missense_Mutation_p.N670T|IFI16_ENST00000368132.3_Missense_Mutation_p.N670T|IFI16_ENST00000448393.2_Missense_Mutation_p.N614T|IFI16_ENST00000430894.2_Missense_Mutation_p.N674T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	726	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACCACAATCAACTGTGAGGAA	0.413000													8	141					0	0	0.038147	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762216	130762216	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:130762216C>T	ENST00000392429.1	+	2	3027	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R217W|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R217W	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	217						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCGGGTTTTCGGAGCAGTTT	0.478000													11	37					0	0	0.080935	0	0
ARID1A	8289	broad.mit.edu	37	1	27106069	27106069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:27106069C>T	ENST00000324856.7	+	20	6051	c.5680C>T	c.(5680-5682)Cag>Tag	p.Q1894*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1677*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1511*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q222*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1894					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)		GACAACAGACCAGGAGGGGCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								64	68					0	0	0.139131	0	0
AMOT	154796	broad.mit.edu	37	X	112035062	112035062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:112035062G>A	ENST00000371959.3	-	6	1923	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q233*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q410*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q410*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.Q642*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	642					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCATACCTGCTGGATTCTC	0.448000													44	136					0	0	0.139131	0	0
OR8I2	120586	broad.mit.edu	37	11	55861485	55861485	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55861485G>A	ENST00000302124.2	+	1	733	c.702G>A	c.(700-702)caG>caA	p.Q234Q	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAGGCAGGCAGAAGGCCTTCT	0.468000													13	101					0	0	0.119110	0	0
BTK	695	broad.mit.edu	37	X	100611180	100611180	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:100611180A>T	ENST00000308731.7	-	15	1589	c.1426T>A	c.(1426-1428)Tac>Aac	p.Y476N	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	476	Protein kinase.		Y -> D (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGCCATGTACTCAGTGATG	0.532000									Agammaglobulinemia, X-linked				31	64					0	0	0.144211	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:41984513C>T	ENST00000333141.5	+	1	801	c.704C>T	c.(703-705)aCg>aTg	p.T235M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	235										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGCTAGTACGGCTCCTTTG	0.562000													24	149					0	0	0.108266	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931348	144931348	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:144931348G>C	ENST00000529945.1	-	1	800	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P121A|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCGCATCGGGTAAGACGGAC	0.542000			T	PDGFRB	MPD								18	263					0	0	0.175082	0	0
IL32	9235	broad.mit.edu	37	16	3119263	3119263	+	Silent	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:3119263C>G	ENST00000525643.2	+	7	806	c.474C>G	c.(472-474)ctC>ctG	p.L158L	IL32_ENST00000548652.1_Silent_p.L149L|IL32_ENST00000008180.9_Silent_p.L138L|IL32_ENST00000529550.1_Silent_p.L158L|IL32_ENST00000534507.1_Silent_p.L204L|IL32_ENST00000552936.1_Silent_p.L182L|IL32_ENST00000444393.3_Silent_p.L158L|IL32_ENST00000325568.5_Silent_p.L158L|IL32_ENST00000530890.1_Silent_p.L138L|IL32_ENST00000548476.1_Silent_p.L204L|IL32_ENST00000551513.1_Silent_p.L195L|IL32_ENST00000531965.1_Silent_p.L148L|IL32_ENST00000382213.3_Silent_p.L149L|IL32_ENST00000552356.1_Silent_p.L138L|IL32_ENST00000530538.2_Silent_p.L158L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548246.1_Silent_p.L118L|IL32_ENST00000526464.2_Silent_p.L158L|IL32_ENST00000529699.1_Silent_p.L138L|IL32_ENST00000528163.2_Silent_p.L158L|IL32_ENST00000533097.2_Silent_p.L158L|IL32_ENST00000549213.1_Intron|IL32_ENST00000440815.3_Silent_p.L158L|IL32_ENST00000552664.1_Silent_p.L158L|IL32_ENST00000396887.3_Intron|IL32_ENST00000396890.2_Silent_p.L204L			P24001	IL32_HUMAN	interleukin 32	204					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGTCAGAGCTCTTCATGTCCT	0.567000													63	122					0	0	0.139131	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	59					0	0	0.217242	0	0
UNC5C	8633	broad.mit.edu	37	4	96166259	96166259	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:96166259A>G	ENST00000453304.1	-	6	1160	c.812T>C	c.(811-813)gTg>gCg	p.V271A	UNC5C_ENST00000506749.1_Missense_Mutation_p.V271A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	271	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTGTTACACACAGACCACTC	0.527000													3	44					0	0	0.115264	0	0
ZNF547	284306	broad.mit.edu	37	19	57883181	57883181	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:57883181A>G	ENST00000282282.3	+	3	206	c.56A>G	c.(55-57)tAt>tGt	p.Y19C	AC003002.4_ENST00000597658.1_Missense_Mutation_p.Y19C	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGCCATATATTTCTCCCAG	0.438000													12	212					0	0	0.093190	0	0
PIGT	51604	broad.mit.edu	37	20	44053148	44053148	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44053148C>T	ENST00000279036.6	+	11	1493	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	PIGT_ENST00000341555.5_Silent_p.L277L|PIGT_ENST00000535404.1_Silent_p.L316L|PIGT_ENST00000543458.2_Silent_p.L415L|PIGT_ENST00000545755.1_Silent_p.L209L|PIGT_ENST00000279035.9_Silent_p.L369L|PIGT_ENST00000372689.5_Silent_p.L404L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	471					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CATCTGTCCTCAGCGCCCTTG	0.567000													9	63					0	0	0.058154	0	0
BRD2	6046	broad.mit.edu	37	6	32944128	32944128	+	Missense_Mutation	SNP	C	C	T	rs138654993	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:32944128C>T	ENST00000395289.2	+	6	2313	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	BRD2_ENST00000374831.4_Missense_Mutation_p.L238F|BRD2_ENST00000374825.4_Missense_Mutation_p.L238F|BRD2_ENST00000395287.1_Missense_Mutation_p.L238F|BRD2_ENST00000443797.2_Missense_Mutation_p.L118F|BRD2_ENST00000449085.2_Missense_Mutation_p.L191F			P25440	BRD2_HUMAN	bromodomain containing 2	238			L -> F (in dbSNP:rs176250).		spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TACCACTGTCCTCAACATTCC	0.567000													5	100					0	0	0.029380	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922564	48922564	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:48922564C>T	ENST00000263269.3	+	8	1897	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	603						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTTTTCATCTTCGAGTACC	0.607000													16	29					0	0	0.146539	0	0
PCDH15	65217	broad.mit.edu	37	10	55892725	55892725	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:55892725A>T	ENST00000373965.2	-	16	2242	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	PCDH15_ENST00000395445.1_Missense_Mutation_p.N616K|PCDH15_ENST00000361849.3_Missense_Mutation_p.N609K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.N572K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N609K|PCDH15_ENST00000320301.6_Missense_Mutation_p.N609K|PCDH15_ENST00000395430.1_Missense_Mutation_p.N609K|PCDH15_ENST00000414778.1_Missense_Mutation_p.N614K|PCDH15_ENST00000395446.1_Missense_Mutation_p.N609K|PCDH15_ENST00000373957.3_Missense_Mutation_p.N587K|PCDH15_ENST00000409834.1_Missense_Mutation_p.N220K|PCDH15_ENST00000395433.1_Missense_Mutation_p.N587K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.N609K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	609	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCTTTGATTATTTGGTGGAA	0.413000										HNSCC(58;0.16)			8	25					0	0	0.038147	0	0
OR14A16	284532	broad.mit.edu	37	1	247978985	247978985	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:247978985G>C	ENST00000357627.1	-	1	46	c.47C>G	c.(46-48)tCt>tGt	p.S16C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTATTGGTAGAAAACCCCAT	0.358000													4	43					0	0	0.184627	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411590	23411590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:23411590A>C	ENST00000379361.4	+	3	2815	c.1955A>C	c.(1954-1956)aAg>aCg	p.K652T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	652					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGGTGGCCAAGACCATGGAA	0.428000													6	135					0	0	0.217242	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306666	13306666	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:13306666C>T	ENST00000379300.3	-	7	1002	c.759G>A	c.(757-759)ctG>ctA	p.L253L	TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000343141.4_Silent_p.L207L|TBC1D7_ENST00000356436.4_Silent_p.L253L|TBC1D7_ENST00000379307.2_Silent_p.L226L	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	253					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCACTGTTCAGTGCCATAA	0.338000													4	45					0	0	0.150653	0	0
MSL3	10943	broad.mit.edu	37	X	11778598	11778598	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:11778598A>C	ENST00000337339.2	+	3	289	c.262A>C	c.(262-264)Aga>Cga	p.R88R	MSL3_ENST00000398527.2_Silent_p.R76R|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000312196.4_Silent_p.R88R|MSL3_ENST00000380693.3_5'UTR	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	88	Chromo.				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TAAATTGGCAAGAAAAGCTGT	0.328000													6	117					0	0	0.217242	0	0
MYH8	4626	broad.mit.edu	37	17	10317241	10317241	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:10317241T>C	ENST00000403437.2	-	12	1219	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	375	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGCTCAGCTTGCTCCTCAC	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	149					0	0	0.125774	0	0
UNC79	57578	broad.mit.edu	37	14	94088785	94088785	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:94088785T>C	ENST00000553484.1	+	31	5426	c.5272T>C	c.(5272-5274)Tcc>Ccc	p.S1758P	UNC79_ENST00000555664.1_Missense_Mutation_p.S1736P|UNC79_ENST00000393151.2_Missense_Mutation_p.S1736P|UNC79_ENST00000256339.4_Missense_Mutation_p.S1559P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1736						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						GCCAGAGTTCTCCTGCGGTAG	0.557000													20	80					0	0	0.219247	0	0
CHD5	26038	broad.mit.edu	37	1	6186807	6186807	+	Splice_Site	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:6186807C>T	ENST00000262450.3	-	26	4003		c.e26-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCACCTCCTCCTGGGGACGCA	0.647000													3	39					0	0	0.115264	0	0
NWD1	284434	broad.mit.edu	37	19	16899898	16899898	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:16899898T>G	ENST00000524140.2	+	13	3255	c.2837T>G	c.(2836-2838)tTt>tGt	p.F946C	NWD1_ENST00000552788.1_Missense_Mutation_p.F946C|NWD1_ENST00000549814.1_Missense_Mutation_p.F946C|NWD1_ENST00000523826.1_Missense_Mutation_p.F740C|NWD1_ENST00000379808.3_Missense_Mutation_p.F946C|NWD1_ENST00000339803.6_Missense_Mutation_p.F811C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	946							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGAGAAATTTACCATTTGG	0.473000													4	43					0	0	0.150653	0	0
KDM4A	9682	broad.mit.edu	37	1	44133491	44133493	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:44133491_44133493delAGA	ENST00000372396.3	+	9	1098_1100	c.964_966delAGA	c.(964-966)del	p.R322del		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	322					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGTTTGTGAGAAAGTTCCAGC	0.483													20	80	---	---	---	---					
IRF2BP2	359948	broad.mit.edu	37	1	234743032	234743034	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:234743032_234743034delTGA	ENST00000366609.3	-	2	1643_1645	c.1613_1615delTCA	c.(1612-1617)aaa>a	p.IK538del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.IK522del|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	538	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCCTGCTGTTTGATGCTTTGTCT	0.567													46	69	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28928144	28928144	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:28928144delG	ENST00000524189.1	-	40	5396	c.5358delC	c.(5356-5358)ccfs	p.P1786fs	KIF13B_ENST00000404075.3_Frame_Shift_Del_p.P305fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1786					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGCGGGCCTCGGGGGCACCCA	0.736													2	4	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1																						GAAGCAAATGTAAAAAAAAAAA	0.386													3	6	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													3	4	---	---	---	---					
CD9	928	broad.mit.edu	37	12	6344416	6344416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:6344416delT	ENST00000382518.1	+	6	806	c.370delT	c.(370-372)ttfs	p.F124fs	CD9_ENST00000009180.4_Frame_Shift_Del_p.F124fs|CD9_ENST00000382515.2_Frame_Shift_Del_p.F55fs|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	124					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						AGTCCAGGAGTTTTACAAGGA	0.498													27	70	---	---	---	---					
