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
OTOGL	283310	broad.mit.edu	37	12	80752449	80752449	+	Splice_Site	SNP	A	A	C			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr12:80752449A>C	ENST00000458043.2	+	50	6100		c.e50-1		OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTCTTTTTAGTATGTGAAC	0.348000													4	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			11	58					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80872758	80872758	+	Silent	SNP	A	A	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr15:80872758A>T	ENST00000533983.1	+	17	1926	c.1587A>T	c.(1585-1587)tcA>tcT	p.S529S	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Silent_p.S540S|ARNT2_ENST00000527771.1_Silent_p.S529S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	540					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTAGCTCTTCAGTGGTTCATG	0.512000													18	123					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423783	190423783	+	Splice_Site	SNP	A	A	G			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr1:190423783A>G	ENST00000367462.3	-	2	468		c.e2+1		FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Splice_Site	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN								extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTTGCTTCATACCTGTATATC	0.413000													3	18					0	0	1	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231476	29231476	+	RNA	SNP	A	A	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr6:29231476A>T	ENST00000441381.1	+	0	79																											TATAGTCCAGAGGCTTGCAGA	0.463000													24	179					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738577	41738577	+	Silent	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr22:41738577C>T	ENST00000352645.4	+	12	1499	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	ZC3H7B_ENST00000351589.4_Silent_p.P414P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	430					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAAGAACCCCTTGGCTGCCA	0.592000													8	51					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839443	233839443	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:233839443G>T	ENST00000264051.3	-	2	436	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	53	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGCAATGAGGCTCTTTGTC	0.473000													26	162					7.92952e-12	8.9418e-12	1	1	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775552	27775552	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr6:27775552C>T	ENST00000377401.2	-	1	157	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	45					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGCTTCAGCACCTTGTACACG	0.577000													26	189					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231386814	231386814	+	Silent	SNP	A	A	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr1:231386814A>T	ENST00000366647.4	+	2	355	c.186A>T	c.(184-186)ggA>ggT	p.G62G	GNPAT_ENST00000366646.3_Intron	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	62					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTATAAGGGAATTACTCCAT	0.353000													14	86					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134481154	134481154	+	Silent	SNP	G	G	A	rs45487096	byFrequency	TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chrX:134481154G>A	ENST00000339249.4	+	2	251	c.111G>A	c.(109-111)caG>caA	p.Q37Q	ZNF449_ENST00000370761.3_Silent_p.Q37Q|ZNF449_ENST00000370760.3_Silent_p.Q37Q	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTTCCAGTACAGAGAAG	0.483000													5	78					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153702	5153702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr12:5153702G>A	ENST00000252321.3	+	1	618	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	130						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCCGGGCTGCGCTTTGAGACG	0.677000													6	35					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477537	74477537	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:74477537T>C	ENST00000394019.2	-	17	1983	c.1586A>G	c.(1585-1587)tAc>tGc	p.Y529C	SLC4A5_ENST00000377632.1_Missense_Mutation_p.Y529C|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Y529C|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Y465C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Y465C|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Y529C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Y529C|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Y529C	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	529						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACAGCCGAGGTAGATGAATAG	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	123					0	0	1	0	0
H1FX	8971	broad.mit.edu	37	3	129034140	129034140	+	Silent	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr3:129034140C>T	ENST00000333762.4	-	1	980	c.606G>A	c.(604-606)aaG>aaA	p.K202K		NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	202					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						GGACGCTGGGCTTGGCCGCCT	0.642000													4	28					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350393	115350393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr10:115350393C>T	ENST00000369358.4	-	40	5168	c.4924G>A	c.(4924-4926)Gac>Aac	p.D1642N	NRAP_ENST00000369360.3_Missense_Mutation_p.D1607N|NRAP_ENST00000360478.3_Missense_Mutation_p.D1599N|NRAP_ENST00000359988.3_Missense_Mutation_p.D1634N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1634						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCGGGTCGCAGGTGGGC	0.667000													11	61					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401153	124401153	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr12:124401153G>A	ENST00000409039.3	+	62	10543	c.10518G>A	c.(10516-10518)cgG>cgA	p.R3506R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3506	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCAAGGACGGCAGTTTATTA	0.438000													3	46					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689951	153689951	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chrX:153689951G>A	ENST00000369682.3	+	3	1282	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	369	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCTGCTGAACAAGGAGC	0.637000													28	85					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920534	219920534	+	Missense_Mutation	SNP	G	G	A	rs3731880		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:219920534G>A	ENST00000295731.5	-	3	630	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	211					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCCAGGCGTACCTGGGCT	0.667000													7	33					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50550636	50550636	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr15:50550636G>A	ENST00000267845.3	-	3	685	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	HDC_ENST00000543581.1_Silent_p.L95L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	95					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCATCAGCCAGCATGTCTCCT	0.577000													9	36					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75866077	75866077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr6:75866077G>A	ENST00000322507.8	-	15	3455	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S1049L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S1049L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1049	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAACACTGTCGAAGTGACTGT	0.493000													11	111					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			4	44					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387865	119387865	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chrX:119387865T>A	ENST00000326624.2	+	2	823	c.595T>A	c.(595-597)Tcc>Acc	p.S199T	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S199T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	199					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTTTTTGCTCCGAGATTCT	0.398000													12	38					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	31					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33176367	33176367	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr20:33176367G>A	ENST00000374820.2	-	7	632	c.612C>T	c.(610-612)atC>atT	p.I204I	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.I224I			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	224					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CCCAAGAAAAGATCCAGAAGG	0.458000													4	62					0	0	1	0	0
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	T	A	rs144220014	by1000genomes	TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:243056808T>A	ENST00000456398.1	+	0	329																											ATAGCGAAGATGGAGAAATAC	0.279000													5	34					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	75					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39055535	39055535	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:39055535C>A	ENST00000295373.6	-	14	2712	c.2586G>T	c.(2584-2586)atG>atT	p.M862I		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	862	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTCATAAAGCATTTTGATTT	0.343000													7	49					8.12818e-05	8.44694e-05	1	1	0
HSCB	150274	broad.mit.edu	37	22	29153091	29153091	+	Silent	SNP	T	T	C			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr22:29153091T>C	ENST00000216027.3	+	6	707	c.642T>C	c.(640-642)atT>atC	p.I214I	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	214					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CCAAGGAAATTTTGACAAAGA	0.328000													20	110					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508808	106508808	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr7:106508808C>A	ENST00000359195.3	+	2	1112	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q268K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q268K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	268					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAAAGCGAACAGGATTTTGT	0.562000													8	65					1.06961e-07	1.15693e-07	1	1	0
TBL1Y	90665	broad.mit.edu	37	Y	6911085	6911085	+	Silent	SNP	G	G	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chrY:6911085G>T	ENST00000383032.1	+	7	770	c.123G>T	c.(121-123)ggG>ggT	p.G41G	TBL1Y_ENST00000346432.3_Silent_p.G41G|TBL1Y_ENST00000355162.2_Silent_p.G41G	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	41	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACATCAATGGGACACTAGTGC	0.522000													12	48					0.0135373	0.0137976	1	1	0
DOCK1	1793	broad.mit.edu	37	10	128795024	128795024	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr10:128795024G>A	ENST00000280333.6	+	7	595	c.486G>A	c.(484-486)ttG>ttA	p.L162L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	162					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCTAGATTTGGACCTGGTGG	0.403000													14	127					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27852735	27852735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr21:27852735C>T	ENST00000299340.4	-	3	533	c.190G>A	c.(190-192)Gcg>Acg	p.A64T	CYYR1_ENST00000400043.3_Missense_Mutation_p.A64T|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	64						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ACAATGCCCGCAATTGCAGTG	0.433000													12	80					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439594	99439594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr2:99439594C>T	ENST00000397899.2	-	7	1473	c.1142G>A	c.(1141-1143)tGt>tAt	p.C381Y		NM_207362.2	NP_997245.2			KIAA1211-like																		GGCCGGGGCACACGGGCCTGC	0.751000													5	5					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45723893	45723893	+	Silent	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr22:45723893C>T	ENST00000216214.3	+	5	1305	c.471C>T	c.(469-471)ggC>ggT	p.G157G	FAM118A_ENST00000405673.1_Silent_p.G157G|FAM118A_ENST00000441876.2_Silent_p.G157G	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	157						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGGCCTTTGGCCGGCGGCAGA	0.627000													3	32					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081457	152081457	+	Silent	SNP	G	G	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr1:152081457G>A	ENST00000368804.1	-	2	4235	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1412	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTCGCGGTCCTGAC	0.602000													32	146					0	0	1	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													6	30					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77230124	77230124	+	Splice_Site	SNP	G	G	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr7:77230124G>T	ENST00000248594.6	+	8	967		c.e8+1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCATTGCAGGTACAAAAGAA	0.289000													12	60					1.61879e-10	1.78742e-10	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73499946	73499946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr17:73499946C>T	ENST00000321617.3	-	15	2151	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R440H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	522	SAM 1.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTGTCATGCGGCTGATGGT	0.652000													3	20					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743534	81743534	+	Silent	SNP	C	C	T			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr14:81743534C>T	ENST00000555447.1	-	6	2533	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	STON2_ENST00000267540.2_Silent_p.L707L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	707	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGACATCCTCAGCCAGCTCT	0.547000													18	100					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683311	48683311	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr17:48683311C>A	ENST00000352832.5	+	22	4652	c.4280C>A	c.(4279-4281)aCc>aAc	p.T1427N	CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1427N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1427N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1427N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1427N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1450N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1450					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAACATCACCAATAAATCG	0.552000													8	42					5.18039e-06	5.49121e-06	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43713342	43713345	+	Frame_Shift_Del	DEL	CGTC	CGTC	-			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr15:43713342_43713345delCGTC	ENST00000263801.3	-	20	4365_4368	c.4113_4116delGACG	c.(4111-4116)ggfs	p.GT1371fs	TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.GT1376fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.GT1376fs|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1371					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CACACACTGGCGTCCCTGTCTGAC	0.564								Other conserved DNA damage response genes					11	78	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23fc1135-e9cd-43ef-a121-8f2c81f3fcb8	82a24f3a-623e-4a8a-9b8c-e890bc28bf3a	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	6	---	---	---	---