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
STXBP4	252983	broad.mit.edu	37	17	53158448	53158448	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:53158448A>C	ENST00000376352.2	+	16	1600	c.1393A>C	c.(1393-1395)Aca>Cca	p.T465P	STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	465						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACTTCCCTCACACCACTGGG	0.393000													4	47					0	0	0.00024832	0	0
C10orf95	79946	broad.mit.edu	37	10	104210810	104210810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:104210810C>T	ENST00000239125.1	-	2	252	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	60	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CGGCGGCGGCCAGACGCCCTG	0.716000													7	16					0	0	0.00307968	0	0
DCC	1630	broad.mit.edu	37	18	50977000	50977000	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:50977000T>G	ENST00000442544.2	+	23	3976	c.3360T>G	c.(3358-3360)atT>atG	p.I1120M	DCC_ENST00000581580.1_Missense_Mutation_p.I755M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1120					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCTGTGATTTGCACCCGAC	0.488000													6	36					0	0	0.00116845	0	0
ALG1	56052	broad.mit.edu	37	16	5127458	5127458	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:5127458C>A	ENST00000588623.1	+	6	1319	c.219C>A	c.(217-219)ttC>ttA	p.F73L	ALG1_ENST00000544428.1_Missense_Mutation_p.F73L|ALG1_ENST00000262374.5_Missense_Mutation_p.F184L			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	184					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGAGAAGTTCTTTGGGCGCC	0.552000													19	100					1.01871e-10	5.68688e-10	0.00121646	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750590	79750590	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:79750590A>T	ENST00000305428.3	+	2	2176	c.2101A>T	c.(2101-2103)Aaa>Taa	p.K701*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	701						integral to membrane		p.K701*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCTTAAAAAAAAGCCTCTT	0.552000													12	108					0	0	0.000978159	0	0
STRADA	92335	broad.mit.edu	37	17	61781730	61781730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:61781730C>A	ENST00000392950.4	-	9	1233	c.960G>T	c.(958-960)gaG>gaT	p.E320D	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000336174.6_Missense_Mutation_p.E357D|STRADA_ENST00000375840.4_Missense_Mutation_p.E299D|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_5'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	357	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GAAGGCACTGCTCCACAAAGT	0.662000													4	25					0.00116845	0.00576282	0.00116845	1	0
DIS3	22894	broad.mit.edu	37	13	73346872	73346872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:73346872G>A	ENST00000377767.4	-	9	1445	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	DIS3_ENST00000545453.1_Missense_Mutation_p.L287F|DIS3_ENST00000377780.4_Missense_Mutation_p.L419F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	449					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGAAAACTAAGAACAGCCTGT	0.363000										Multiple Myeloma(4;0.011)			4	98					0	0	0.000602214	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCCATCTGACAGGTCTCTG	0.532000													4	216					0	0	0.00116845	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	71					0	0	6.4e-05	0	0
SNHG12	85028	broad.mit.edu	37	1	28906300	28906300	+	RNA	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:28906300C>A	ENST00000488745.1	-	0	1170				SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA																							AGCCCACATGCCATATACCAG	0.433000													21	65					1.22574e-08	6.69543e-08	0.00229938	1	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			17	15					0	0	0.00400662	0	0
UNC93A	54346	broad.mit.edu	37	6	167721317	167721317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:167721317C>T	ENST00000230256.3	+	7	1202	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGGAGACCTCGTGCTGACCA	0.617000													7	63					0	0	0.00198382	0	0
PKD1	5310	broad.mit.edu	37	16	2159543	2159543	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:2159543G>C	ENST00000262304.4	-	15	5833	c.5625C>G	c.(5623-5625)gtC>gtG	p.V1875V	PKD1_ENST00000423118.1_Silent_p.V1875V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1875	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTGGCTGAGACCCAGCTGA	0.652000													8	13					0	0	0.000274275	0	0
GLOD5	392465	broad.mit.edu	37	X	48629492	48629492	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:48629492C>T	ENST00000303227.6	+	3	392	c.351C>T	c.(349-351)caC>caT	p.H117H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TGATCCAGCACCTCAAGGTGA	0.483000													18	10					0	0	0.00074312	0	0
PCCA	5095	broad.mit.edu	37	13	100861712	100861712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:100861712G>A	ENST00000376285.1	+	7	633	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	PCCA_ENST00000376279.3_Missense_Mutation_p.V199I|PCCA_ENST00000376286.4_Missense_Mutation_p.V173I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	199	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATGGAGTAGTCAAGGTGAG	0.338000													10	63					0	0	0.000673444	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965229	135965229	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:135965229C>T	ENST00000401392.1	-	19	2990	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000264159.6_Silent_p.A928A			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428000													28	194					0	0	0.000720815	0	0
CILP2	148113	broad.mit.edu	37	19	19655256	19655256	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19655256G>A	ENST00000586018.1	+	8	2022	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	CILP2_ENST00000291495.4_Silent_p.L634L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	634						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACGGCGAGCTGGCTCCACTGC	0.736000													7	123					0	0	0.000274275	0	0
RRP7BP	91695	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	T	C	rs137064	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:42971987T>C	ENST00000357802.2	-	0	733																		p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000													3	23					0	0	6.4e-05	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	6					0	0	6.4e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	21967641	21967641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:21967641G>A	ENST00000261200.4	-	33	4038	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	ABCC9_ENST00000261201.4_Missense_Mutation_p.R1347C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1347	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCCAGTGCGACCACATATG	0.388000													8	47					0	0	0.000442599	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834513	83834513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:83834513A>T	ENST00000349129.2	+	13	1690	c.1430A>T	c.(1429-1431)gAt>gTt	p.D477V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D468V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D468V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	477					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACTGGTGGATTTTTTGTTG	0.393000													26	57					0	0	0.000878237	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734913	12734913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:12734913G>A	ENST00000380682.1	+	15	2841	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	779					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCAAGCGATGACATCATTGA	0.592000													9	100					0	0	0.000673444	0	0
RNF40	9810	broad.mit.edu	37	16	30779808	30779808	+	Silent	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:30779808C>A	ENST00000324685.6	+	13	2371	c.1936C>A	c.(1936-1938)Cgg>Agg	p.R646R	RNF40_ENST00000357890.5_Silent_p.R546R|RNF40_ENST00000563683.1_Silent_p.R606R|RNF40_ENST00000402121.3_Silent_p.R338R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	646					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAAACCAAGCGGAAGGAATC	0.597000													4	75					0.00024832	0.00127421	0.00024832	1	0
CYB561A3	220002	broad.mit.edu	37	11	61124072	61124072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:61124072A>T	ENST00000546151.1	-	3	382	c.114T>A	c.(112-114)aaT>aaA	p.N38K	CYB561A3_ENST00000447532.2_Missense_Mutation_p.N38K|CYB561A3_ENST00000544118.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000294072.4_Missense_Mutation_p.N38K|CYB561A3_ENST00000539890.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000536915.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.N55K					cytochrome b561 family, member A3																		AGATGCTGCCATTCCAGGCAA	0.547000													24	91					0	0	0.00332997	0	0
TEK	7010	broad.mit.edu	37	9	27220088	27220088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:27220088G>A	ENST00000380036.4	+	21	3587	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TEK_ENST00000406359.4_Missense_Mutation_p.E1006K|TEK_ENST00000519097.1_Missense_Mutation_p.E901K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1049	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGAACTCTACGAGAAGCTGCC	0.532000													6	96					0	0	0.000274275	0	0
FAM110B	90362	broad.mit.edu	37	8	59059406	59059406	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:59059406T>C	ENST00000361488.3	+	5	1497	c.617T>C	c.(616-618)gTg>gCg	p.V206A	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	206						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCGCAAGGTGACCAGCGTG	0.657000													11	72					0	0	0.00136819	0	0
QPCT	25797	broad.mit.edu	37	2	37599902	37599902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37599902G>A	ENST00000338415.3	+	7	1176	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	QPCT_ENST00000537448.1_Missense_Mutation_p.D291N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	340					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGAAAATTTGGATGAATCAAC	0.358000													4	75					0	0	0.000602214	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	36					0	0	0.000602214	0	0
HTR4	3360	broad.mit.edu	37	5	147845444	147845444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:147845444C>G	ENST00000314512.6	-	7	1284	c.1121G>C	c.(1120-1122)aGa>aCa	p.R374T	HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGAACTGGTCTATTGCAGAA	0.443000													5	144					0	0	0.000602214	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637000													5	12					0	0	0.00116845	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563958	176563958	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:176563958G>T	ENST00000367662.3	+	3	2382	c.1218G>T	c.(1216-1218)ttG>ttT	p.L406F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	406					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCGCTCTTTGCTCCTGGGGG	0.587000													32	59					4.3181e-19	2.49272e-18	0.00283554	1	0
HTR3D	200909	broad.mit.edu	37	3	183754191	183754191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:183754191G>T	ENST00000382489.3	+	4	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S	HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	137						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTCTCATGGCTAGTATGTC	0.507000													16	23					4.14922e-12	2.342e-11	0.00400662	1	0
SULF1	23213	broad.mit.edu	37	8	70536227	70536227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:70536227G>A	ENST00000260128.4	+	15	2362	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000402687.4_Missense_Mutation_p.E549K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	549					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTGTCCGTCGAATTTGAAGG	0.408000													11	63					0	0	0.000673444	0	0
CERKL	375298	broad.mit.edu	37	2	182414397	182414397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:182414397G>A	ENST00000410087.3	-	6	959	c.859C>T	c.(859-861)Cct>Tct	p.P287S	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000339098.5_Missense_Mutation_p.P313S	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	313	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCACATGAGGAACTCCATGA	0.343000													11	80					0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	rs148844389	byFrequency	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:152283083C>T	ENST00000368799.1	-	3	4314	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1427	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.557000									Ichthyosis				38	318					0	0	0.000953801	0	0
TRIM48	79097	broad.mit.edu	37	11	55032644	55032644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55032644G>A	ENST00000417545.2	+	2	399	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	89						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTGAGCTCTGAGGAGCAAAT	0.483000													8	61					0	0	0.000274275	0	0
TRGV9	6983	broad.mit.edu	37	7	38356883	38356883	+	RNA	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:38356883G>A	ENST00000444775.2	-	0	1469																											TTTTGACAGCGTTTTAGTACT	0.423000													10	76					0	0	0.000673444	0	0
OR14A16	284532	broad.mit.edu	37	1	247978414	247978414	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:247978414G>A	ENST00000357627.1	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	206					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						TAAAACAGCAGAAATCCAAAA	0.373000													4	50					0	0	0.00024832	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378750	113378750	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:113378750G>C	ENST00000316407.4	-	7	2189	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L593L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	593					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGCAGGGAGGAGTGGCAAAG	0.473000													30	67					0	0	0.00178596	0	0
SRRT	51593	broad.mit.edu	37	7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:100483362C>T	ENST00000388793.4	+	11	1575	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000347433.4_Missense_Mutation_p.S453L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	453					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537000													18	99					0	0	0.00074312	0	0
PYDC2	152138	broad.mit.edu	37	3	191179054	191179054	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:191179054C>A	ENST00000518817.1	+	1	103	c.103C>A	c.(103-105)Ctg>Atg	p.L35M		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	35	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AACAATCTCCCTGGGAAAGGA	0.537000													10	96					7.48243e-07	3.95945e-06	0.000442599	1	0
CDK11B	984	broad.mit.edu	37	1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:1573143G>T	ENST00000407249.3	-	14	1453	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H|CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	495	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GACGATGTTGGGATGCTGGGC	0.607000													21	222					1.28384e-07	6.86516e-07	0.00188189	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3397090	3397090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:3397090G>A	ENST00000378378.4	+	15	2474	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	690					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATCACCAGCCGTGTGGCCGTG	0.677000													6	49					0	0	0.00116845	0	0
ASPN	54829	broad.mit.edu	37	9	95236914	95236914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:95236914G>C	ENST00000375544.3	-	2	509	c.266C>G	c.(265-267)tCa>tGa	p.S89*	ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323000													4	26					0	0	0.000602214	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348419	89348419	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:89348419G>A	ENST00000301030.4	-	9	4991	c.4531C>T	c.(4531-4533)Ccc>Tcc	p.P1511S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1511	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCACGCGGGGCGGGCTGTCC	0.632000													4	66					0	0	0.000602214	0	0
BCKDHB	594	broad.mit.edu	37	6	80878708	80878708	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:80878708G>A	ENST00000545529.1	+	5	622	c.594G>A	c.(592-594)caG>caA	p.Q198Q	BCKDHB_ENST00000369760.4_Silent_p.Q198Q|BCKDHB_ENST00000356489.5_Silent_p.Q198Q|BCKDHB_ENST00000320393.6_Silent_p.Q198Q			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	198					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCATTCTCAGAGTCCTGAAG	0.423000													7	81					0	0	0.00198382	0	0
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662000													8	55					0	0	0.00136819	0	0
C1orf177	163747	broad.mit.edu	37	1	55279519	55279519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:55279519G>T	ENST00000358193.3	+	7	849	c.795G>T	c.(793-795)aaG>aaT	p.K265N	C1orf177_ENST00000371273.3_Missense_Mutation_p.K265N	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	265										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGAATTTCAAGAGCTTTGTAG	0.413000													6	60					0.00116845	0.00576282	0.00116845	1	0
AP3D1	8943	broad.mit.edu	37	19	2121250	2121250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:2121250C>T	ENST00000355272.6	-	13	1368	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E388K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	388					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTACCCTCTGCCTTGTCT	0.542000													6	69					0	0	0.00198382	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199851	26199851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:26199851C>T	ENST00000359985.1	+	1	104	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	22					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGACCAAGGCGCAGAAGAAG	0.517000													23	117					0	0	0.00229938	0	0
STK33	65975	broad.mit.edu	37	11	8414255	8414255	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:8414255A>C	ENST00000447869.1	-	12	2265	c.1347T>G	c.(1345-1347)tcT>tcG	p.S449S	STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Silent_p.S262S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	449						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATAAGCAGTAGACTGCAAAT	0.378000													28	49					0	0	0.000878237	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284598	37284598	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37284598T>G	ENST00000233099.5	-	15	2180	c.2085A>C	c.(2083-2085)gaA>gaC	p.E695D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	695							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCGCTACCAGTTCTCTAAGAA	0.363000													6	23					0	0	0.00116845	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140142	57140142	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:57140142A>C	ENST00000371244.4	+	2	249	c.183A>C	c.(181-183)atA>atC	p.I61I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	61	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTGGAAAAATAAAACGAGAAA	0.294000													18	62					0	0	0.000958276	0	0
TOP2A	7153	broad.mit.edu	37	17	38552685	38552685	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:38552685T>G	ENST00000423485.1	-	28	3728	c.3570A>C	c.(3568-3570)caA>caC	p.Q1190H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1190					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAAGTCCGACTTGTTCATCTT	0.413000													12	108					0	0	0.00136819	0	0
SMTN	6525	broad.mit.edu	37	22	31491537	31491537	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:31491537C>A	ENST00000333137.7	+	13	2021	c.1803C>A	c.(1801-1803)gaC>gaA	p.D601E	SMTN_ENST00000404574.1_Missense_Mutation_p.D200E|SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000347557.2_Missense_Mutation_p.D601E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	601					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCACGGACTTTGAAGAGC	0.577000													15	37					3.27435e-08	1.76954e-07	0.00244969	1	0
STK39	27347	broad.mit.edu	37	2	169020294	169020294	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:169020294A>C	ENST00000355999.4	-	4	1232	c.527T>G	c.(526-528)gTt>gGt	p.V176G		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	176	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GCCTTCCAAAACCTCTTTAAG	0.363000													5	50					0	0	0.00198382	0	0
SRPRB	58477	broad.mit.edu	37	3	133538447	133538447	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:133538447C>A	ENST00000466490.2	+	8	938	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	218						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGGACAGTTCCAGCACTGCC	0.517000													7	71					0.000673444	0.00338722	0.000673444	1	0
PPOX	5498	broad.mit.edu	37	1	161140306	161140306	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:161140306G>A	ENST00000367999.4	+	10	1361	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	PPOX_ENST00000352210.5_Silent_p.V365V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	365					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCAGAGTGACTGTGAGGA	0.542000													10	66					0	0	0.000442599	0	0
THSD7A	221981	broad.mit.edu	37	7	11468652	11468652	+	Silent	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:11468652C>G	ENST00000423059.3	-	14	3416	c.3165G>C	c.(3163-3165)gtG>gtC	p.V1055V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1055	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACGAACCTTCACACCACTCC	0.517000										HNSCC(18;0.044)			17	317					0	0	0.00400662	0	0
OR4C6	219432	broad.mit.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517000													30	86					0	0	0.00127121	0	0
PDE6C	5146	broad.mit.edu	37	10	95386572	95386572	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:95386572G>T	ENST00000371447.3	+	7	1153	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	339	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GACGCCTCCTGCAGACCACTG	0.378000													6	39					8.12818e-05	0.000421339	0.00198382	1	0
RASAL1	8437	broad.mit.edu	37	12	113537802	113537802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:113537802C>A	ENST00000546530.1	-	22	2638	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y|RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783Y	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	783					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGGCACGATCCAGGTCTGCG	0.677000													13	34					5.50884e-06	2.88504e-05	0.00136819	1	0
MYH2	4620	broad.mit.edu	37	17	10447033	10447033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:10447033G>A	ENST00000245503.5	-	8	1120	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448000													6	54					0	0	0.00116845	0	0
PDE3A	5139	broad.mit.edu	37	12	20832977	20832977	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:20832977C>G	ENST00000359062.3	+	16	3238	c.3198C>G	c.(3196-3198)ttC>ttG	p.F1066L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1066	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGAAGACTTTCAAAAGGAGAA	0.358000													7	57					0	0	0.00198382	0	0
USP33	23032	broad.mit.edu	37	1	78194375	78194375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:78194375C>T	ENST00000370793.1	-	11	1179	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	USP33_ENST00000370792.3_Missense_Mutation_p.C278Y|USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370794.3_Missense_Mutation_p.C247Y	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	278					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATCCATTAAACATCGAAGGAA	0.353000													28	50					0	0	0.00106085	0	0
OR2T27	403239	broad.mit.edu	37	1	248814121	248814121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:248814121C>T	ENST00000344889.3	-	1	64	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGGAAACGGGCGTTGCT	0.483000													13	86					0	0	0.00136819	0	0
HEATR1	55127	broad.mit.edu	37	1	236760193	236760193	+	Silent	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:236760193T>C	ENST00000366582.3	-	6	801	c.687A>G	c.(685-687)gtA>gtG	p.V229V	HEATR1_ENST00000366581.2_Silent_p.V229V|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	229					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCTCTGCAGCTACCAGCGCCG	0.448000													10	80					0	0	0.000978159	0	0
LAMA1	284217	broad.mit.edu	37	18	7043287	7043287	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:7043287A>C	ENST00000389658.3	-	8	1187	c.1094T>G	c.(1093-1095)tTg>tGg	p.L365W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	365	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTTCTGCAAGCAATTTAT	0.388000													58	145					0	0	0.00361006	0	0
TRGV2	6974	broad.mit.edu	37	7	38402707	38402707	+	RNA	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:38402707C>T	ENST00000426402.2	-	0	301																											CAAGTGATTTCAGCAGATGAC	0.483000													7	100					0	0	0.00198382	0	0
CPA4	51200	broad.mit.edu	37	7	129948151	129948151	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:129948151G>T	ENST00000222482.4	+	8	735	c.707G>T	c.(706-708)cGa>cTa	p.R236L	CPA4_ENST00000445470.2_Missense_Mutation_p.R203L|CPA4_ENST00000493259.1_Missense_Mutation_p.R132L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	236					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTTCAGAACCGATTATGGAGG	0.557000													18	44					6.94344e-10	3.83399e-09	0.00074312	1	0
USH2A	7399	broad.mit.edu	37	1	216380633	216380633	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:216380633C>G	ENST00000366943.2	-	16	3684	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	USH2A_ENST00000307340.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1100	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTGATCCTCTGTTGTGTAG	0.373000										HNSCC(13;0.011)			9	48					0	0	0.000274275	0	0
TNKS2	80351	broad.mit.edu	37	10	93602105	93602105	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:93602105C>T	ENST00000371627.4	+	16	2395	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	672					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATGTAAATTGCCGCGATACCC	0.418000													4	44					0	0	0.00024832	0	0
ACO2	50	broad.mit.edu	37	22	41919936	41919936	+	Silent	SNP	G	G	A	rs148997312		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:41919936G>A	ENST00000396512.3	+	12	1565	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	ACO2_ENST00000216254.4_Silent_p.T491T			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	491					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTTTGTCACGTCCCCAGAGG	0.617000													9	33					0	0	0.000274275	0	0
CYB561A3	220002	broad.mit.edu	37	11	61124075	61124075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:61124075C>A	ENST00000546151.1	-	3	379	c.111G>T	c.(109-111)tgG>tgT	p.W37C	CYB561A3_ENST00000447532.2_Missense_Mutation_p.W37C|CYB561A3_ENST00000544118.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000294072.4_Missense_Mutation_p.W37C|CYB561A3_ENST00000539890.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000536915.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.W54C					cytochrome b561 family, member A3																		TGCTGCCATTCCAGGCAAAGC	0.547000													20	90					2.37509e-13	1.35567e-12	0.00152264	1	0
ZNF823	55552	broad.mit.edu	37	19	11832973	11832973	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11832973T>G	ENST00000341191.6	-	4	1529	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTCATGATTTTGAAAGGAAGA	0.423000										HNSCC(68;0.2)			6	104					0	0	0.00116845	0	0
MUC20	200958	broad.mit.edu	37	3	195447901	195447901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:195447901C>G	ENST00000320736.6	+	1	149	c.23C>G	c.(22-24)gCt>gGt	p.A8G	MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_Missense_Mutation_p.A8G|MUC20_ENST00000436408.1_Missense_Mutation_p.A8G	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	8					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGGGGTCTGGCTCTGCCCCTT	0.617000													2	7					0	0	6.4e-05	0	0
GPS1	2873	broad.mit.edu	37	17	80013938	80013938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:80013938G>A	ENST00000392358.2	+	8	1365	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	GPS1_ENST00000306823.6_Missense_Mutation_p.R303Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q|GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTTTGACCGGCAGGAGCTG	0.657000													4	29					0	0	0.00024832	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	44					0	0	0.000602214	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					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.L1361L(1)		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)		TGGCCTTGGAAAGGACGCGCT	0.652000													3	85					0	0	6.4e-05	0	0
NEIL1	79661	broad.mit.edu	37	15	75641409	75641409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:75641409G>A	ENST00000564784.1	+	3	792	c.163G>A	c.(163-165)Gag>Aag	p.E55K	NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K|NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	55					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGCGGCAAGGAGCTGCGCCT	0.647000								Base excision repair (BER), DNA glycosylases					4	49					0	0	0.00024832	0	0
NCAN	1463	broad.mit.edu	37	19	19334919	19334919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19334919A>G	ENST00000252575.5	+	4	608	c.565A>G	c.(565-567)Att>Gtt	p.I189V		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	189	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCAGCCATCATTGCAGCCCC	0.602000													21	45					0	0	0.00152264	0	0
SLC26A1	10861	broad.mit.edu	37	4	985266	985266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr4:985266C>A	ENST00000361661.2	-	3	603	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	76						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGACCAGCCCAGACATGACG	0.662000													5	88					0.000602214	0.00305925	0.000602214	1	0
CACNA1C	775	broad.mit.edu	37	12	2224421	2224421	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:2224421T>A	ENST00000399655.1	+	2	346	c.81T>A	c.(79-81)caT>caA	p.H27Q	CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	27					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCCCGCCCATGCCAACATGA	0.622000													6	9					0	0	0.00307968	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432406	140432406	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:140432406A>T	ENST00000306549.3	+	1	1428	c.1351A>T	c.(1351-1353)Ata>Tta	p.I451L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCAATATTTCGGGA	0.423000													9	60					0	0	0.000442599	0	0
AXIN2	8313	broad.mit.edu	37	17	63526139	63526139	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:63526139C>T	ENST00000307078.5	-	11	2800	c.2487G>A	c.(2485-2487)ccG>ccA	p.P829P	AXIN2_ENST00000375702.5_Silent_p.P764P	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	829	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTCATACATCGGGAGCACCG	0.507000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	88					0	0	0.00316338	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816531	80816531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:80816531T>G	ENST00000466387.1	+	19	2834	c.2110T>G	c.(2110-2112)Tgg>Ggg	p.W704G	CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.W704G|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	704					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGGCCAAATGGGACGACAG	0.498000													9	81					0	0	0.000274275	0	0
ETV6	2120	broad.mit.edu	37	12	12022466	12022466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:12022466G>A	ENST00000396373.4	+	5	846	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	191						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAAATCACCGGCCTTCTCCT	0.642000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								56	336					0	0	0.00361006	0	0
PSG8	440533	broad.mit.edu	37	19	43259212	43259212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:43259212C>T	ENST00000404209.4	-	4	1012	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000306511.4_Missense_Mutation_p.G306R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.G213R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	306	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATAGGGTCCTGTTTCATTT	0.498000													46	206					0	0	0.00361006	0	0
STXBP4	252983	broad.mit.edu	37	17	53158448	53158448	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:53158448A>C	ENST00000376352.2	+	16	1600	c.1393A>C	c.(1393-1395)Aca>Cca	p.T465P	STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	465						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACTTCCCTCACACCACTGGG	0.393000													4	47					0	0	0.00024832	0	0
C10orf95	79946	broad.mit.edu	37	10	104210810	104210810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr10:104210810C>T	ENST00000239125.1	-	2	252	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	60	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CGGCGGCGGCCAGACGCCCTG	0.716000													7	16					0	0	0.00307968	0	0
DCC	1630	broad.mit.edu	37	18	50977000	50977000	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr18:50977000T>G	ENST00000442544.2	+	23	3976	c.3360T>G	c.(3358-3360)atT>atG	p.I1120M	DCC_ENST00000581580.1_Missense_Mutation_p.I755M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1120					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCTGTGATTTGCACCCGAC	0.488000													6	36					0	0	0.00116845	0	0
ALG1	56052	broad.mit.edu	37	16	5127458	5127458	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr16:5127458C>A	ENST00000588623.1	+	6	1319	c.219C>A	c.(217-219)ttC>ttA	p.F73L	ALG1_ENST00000544428.1_Missense_Mutation_p.F73L|ALG1_ENST00000262374.5_Missense_Mutation_p.F184L			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	184					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGAGAAGTTCTTTGGGCGCC	0.552000													19	100					1.01871e-10	5.84547e-10	0.00121646	1	0
KIAA1024	23251	broad.mit.edu	37	15	79750590	79750590	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr15:79750590A>T	ENST00000305428.3	+	2	2176	c.2101A>T	c.(2101-2103)Aaa>Taa	p.K701*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	701						integral to membrane		p.K701*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCTTAAAAAAAAGCCTCTT	0.552000													12	108					0	0	0.000978159	0	0
STRADA	92335	broad.mit.edu	37	17	61781730	61781730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:61781730C>A	ENST00000392950.4	-	9	1233	c.960G>T	c.(958-960)gaG>gaT	p.E320D	STRADA_ENST00000375840.4_Missense_Mutation_p.E299D|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E357D|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000447001.3_Intron	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	357	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GAAGGCACTGCTCCACAAAGT	0.662000													4	25					0.00116845	0.00586657	0.00116845	1	0
DIS3	22894	broad.mit.edu	37	13	73346872	73346872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr13:73346872G>A	ENST00000377767.4	-	9	1445	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	DIS3_ENST00000377780.4_Missense_Mutation_p.L419F|DIS3_ENST00000545453.1_Missense_Mutation_p.L287F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	449					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGAAAACTAAGAACAGCCTGT	0.363000										Multiple Myeloma(4;0.011)			4	98					0	0	0.000602214	0	0
SNHG12	85028	broad.mit.edu	37	1	28906300	28906300	+	RNA	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:28906300C>A	ENST00000488745.1	-	0	1170				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000531126.1_RNA																							AGCCCACATGCCATATACCAG	0.433000													21	65					1.22574e-08	6.86983e-08	0.00229938	1	0
STK33	65975	broad.mit.edu	37	11	8414255	8414255	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:8414255A>C	ENST00000447869.1	-	12	2265	c.1347T>G	c.(1345-1347)tcT>tcG	p.S449S	STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S|STK33_ENST00000358872.3_Silent_p.S262S|STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	449						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATAAGCAGTAGACTGCAAAT	0.378000													28	49					0	0	0.000878237	0	0
UNC93A	54346	broad.mit.edu	37	6	167721317	167721317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr6:167721317C>T	ENST00000230256.3	+	7	1202	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGGAGACCTCGTGCTGACCA	0.617000													7	63					0	0	0.00198382	0	0
PKD1	5310	broad.mit.edu	37	16	2159543	2159543	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr16:2159543G>C	ENST00000262304.4	-	15	5833	c.5625C>G	c.(5623-5625)gtC>gtG	p.V1875V	PKD1_ENST00000423118.1_Silent_p.V1875V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1875	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTGGCTGAGACCCAGCTGA	0.652000													8	13					0	0	0.000274275	0	0
GLOD5	392465	broad.mit.edu	37	X	48629492	48629492	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chrX:48629492C>T	ENST00000303227.6	+	3	392	c.351C>T	c.(349-351)caC>caT	p.H117H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TGATCCAGCACCTCAAGGTGA	0.483000													18	10					0	0	0.00074312	0	0
PCCA	5095	broad.mit.edu	37	13	100861712	100861712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr13:100861712G>A	ENST00000376285.1	+	7	633	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	PCCA_ENST00000376286.4_Missense_Mutation_p.V173I|PCCA_ENST00000376279.3_Missense_Mutation_p.V199I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	199	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATGGAGTAGTCAAGGTGAG	0.338000													10	63					0	0	0.000673444	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965229	135965229	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:135965229C>T	ENST00000401392.1	-	19	2990	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000264159.6_Silent_p.A928A|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428000													28	194					0	0	0.000720815	0	0
CILP2	148113	broad.mit.edu	37	19	19655256	19655256	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:19655256G>A	ENST00000586018.1	+	8	2022	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	CILP2_ENST00000291495.4_Silent_p.L634L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	634						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACGGCGAGCTGGCTCCACTGC	0.736000													7	123					0	0	0.000274275	0	0
CYB561A3	220002	broad.mit.edu	37	11	61124075	61124075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:61124075C>A	ENST00000546151.1	-	3	379	c.111G>T	c.(109-111)tgG>tgT	p.W37C	CYB561A3_ENST00000539890.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000426130.2_Missense_Mutation_p.W54C|CYB561A3_ENST00000544118.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000294072.4_Missense_Mutation_p.W37C|CYB561A3_ENST00000447532.2_Missense_Mutation_p.W37C					cytochrome b561 family, member A3																		TGCTGCCATTCCAGGCAAAGC	0.547000													20	90					2.37509e-13	1.39609e-12	0.00152264	1	0
RRP7BP	91695	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	T	C	rs137064	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr22:42971987T>C	ENST00000357802.2	-	0	733																		p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000													3	23					0	0	6.4e-05	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													4	37					0	0	0.00024832	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	6					0	0	6.4e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	21967641	21967641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:21967641G>A	ENST00000261200.4	-	33	4038	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1347C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1347	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCCAGTGCGACCACATATG	0.388000													8	47					0	0	0.000442599	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834513	83834513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr6:83834513A>T	ENST00000349129.2	+	13	1690	c.1430A>T	c.(1429-1431)gAt>gTt	p.D477V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D468V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D468V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	477					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACTGGTGGATTTTTTGTTG	0.393000													26	57					0	0	0.000878237	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734913	12734913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chrX:12734913G>A	ENST00000380682.1	+	15	2841	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	779					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCAAGCGATGACATCATTGA	0.592000													9	100					0	0	0.000673444	0	0
RNF40	9810	broad.mit.edu	37	16	30779808	30779808	+	Silent	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr16:30779808C>A	ENST00000324685.6	+	13	2371	c.1936C>A	c.(1936-1938)Cgg>Agg	p.R646R	RNF40_ENST00000357890.5_Silent_p.R546R|RNF40_ENST00000563683.1_Silent_p.R606R|RNF40_ENST00000402121.3_Silent_p.R338R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	646					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAAACCAAGCGGAAGGAATC	0.597000													4	75					0.00024832	0.00130098	0.00024832	1	0
CYB561A3	220002	broad.mit.edu	37	11	61124072	61124072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:61124072A>T	ENST00000546151.1	-	3	382	c.114T>A	c.(112-114)aaT>aaA	p.N38K	CYB561A3_ENST00000539890.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000426130.2_Missense_Mutation_p.N55K|CYB561A3_ENST00000544118.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000294072.4_Missense_Mutation_p.N38K|CYB561A3_ENST00000447532.2_Missense_Mutation_p.N38K					cytochrome b561 family, member A3																		AGATGCTGCCATTCCAGGCAA	0.547000													24	91					0	0	0.00332997	0	0
TEK	7010	broad.mit.edu	37	9	27220088	27220088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr9:27220088G>A	ENST00000380036.4	+	21	3587	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TEK_ENST00000519097.1_Missense_Mutation_p.E901K|TEK_ENST00000406359.4_Missense_Mutation_p.E1006K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1049	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGAACTCTACGAGAAGCTGCC	0.532000													6	96					0	0	0.000274275	0	0
FAM110B	90362	broad.mit.edu	37	8	59059406	59059406	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr8:59059406T>C	ENST00000361488.3	+	5	1497	c.617T>C	c.(616-618)gTg>gCg	p.V206A	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	206						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCGCAAGGTGACCAGCGTG	0.657000													11	72					0	0	0.00136819	0	0
QPCT	25797	broad.mit.edu	37	2	37599902	37599902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:37599902G>A	ENST00000338415.3	+	7	1176	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	QPCT_ENST00000537448.1_Missense_Mutation_p.D291N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	340					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGAAAATTTGGATGAATCAAC	0.358000													4	75					0	0	0.000602214	0	0
HTR4	3360	broad.mit.edu	37	5	147845444	147845444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr5:147845444C>G	ENST00000314512.6	-	7	1284	c.1121G>C	c.(1120-1122)aGa>aCa	p.R374T	HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGAACTGGTCTATTGCAGAA	0.443000													5	144					0	0	0.000602214	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637000													5	12					0	0	0.00116845	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563958	176563958	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:176563958G>T	ENST00000367662.3	+	3	2382	c.1218G>T	c.(1216-1218)ttG>ttT	p.L406F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	406					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCGCTCTTTGCTCCTGGGGG	0.587000													32	59					4.3181e-19	2.56954e-18	0.00283554	1	0
HTR3D	200909	broad.mit.edu	37	3	183754191	183754191	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr3:183754191G>T	ENST00000382489.3	+	4	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S	HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	137						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTCTCATGGCTAGTATGTC	0.507000													16	23					4.14922e-12	2.40955e-11	0.00400662	1	0
SULF1	23213	broad.mit.edu	37	8	70536227	70536227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr8:70536227G>A	ENST00000260128.4	+	15	2362	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SULF1_ENST00000402687.4_Missense_Mutation_p.E549K|SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	549					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTGTCCGTCGAATTTGAAGG	0.408000													11	63					0	0	0.000673444	0	0
CERKL	375298	broad.mit.edu	37	2	182414397	182414397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:182414397G>A	ENST00000410087.3	-	6	959	c.859C>T	c.(859-861)Cct>Tct	p.P287S	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000339098.5_Missense_Mutation_p.P313S|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	313	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCACATGAGGAACTCCATGA	0.343000													11	80					0	0	0.000673444	0	0
TRIM48	79097	broad.mit.edu	37	11	55032644	55032644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:55032644G>A	ENST00000417545.2	+	2	399	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	89						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTGAGCTCTGAGGAGCAAAT	0.483000													8	61					0	0	0.000274275	0	0
TRGV9	6983	broad.mit.edu	37	7	38356883	38356883	+	RNA	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:38356883G>A	ENST00000444775.2	-	0	1469																											TTTTGACAGCGTTTTAGTACT	0.423000													10	76					0	0	0.000673444	0	0
OR14A16	284532	broad.mit.edu	37	1	247978414	247978414	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:247978414G>A	ENST00000357627.1	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	206					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						TAAAACAGCAGAAATCCAAAA	0.373000													4	50					0	0	0.00024832	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378750	113378750	+	Silent	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr3:113378750G>C	ENST00000316407.4	-	7	2189	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	KIAA2018_ENST00000478658.1_Silent_p.L593L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	593					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGCAGGGAGGAGTGGCAAAG	0.473000													30	67					0	0	0.00178596	0	0
SRRT	51593	broad.mit.edu	37	7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:100483362C>T	ENST00000388793.4	+	11	1575	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	SRRT_ENST00000347433.4_Missense_Mutation_p.S453L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L|SRRT_ENST00000457580.2_Missense_Mutation_p.S453L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	453					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537000													18	99					0	0	0.00074312	0	0
PYDC2	152138	broad.mit.edu	37	3	191179054	191179054	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr3:191179054C>A	ENST00000518817.1	+	1	103	c.103C>A	c.(103-105)Ctg>Atg	p.L35M		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	35	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AACAATCTCCCTGGGAAAGGA	0.537000													10	96					7.48243e-07	4.05228e-06	0.000442599	1	0
CDK11B	984	broad.mit.edu	37	1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:1573143G>T	ENST00000407249.3	-	14	1453	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	495	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GACGATGTTGGGATGCTGGGC	0.607000													21	222					1.28384e-07	7.03194e-07	0.00188189	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3397090	3397090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:3397090G>A	ENST00000378378.4	+	15	2474	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	690					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATCACCAGCCGTGTGGCCGTG	0.677000													6	49					0	0	0.00116845	0	0
ASPN	54829	broad.mit.edu	37	9	95236914	95236914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr9:95236914G>C	ENST00000375544.3	-	2	509	c.266C>G	c.(265-267)tCa>tGa	p.S89*	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89*	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323000													4	26					0	0	0.000602214	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348419	89348419	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr16:89348419G>A	ENST00000301030.4	-	9	4991	c.4531C>T	c.(4531-4533)Ccc>Tcc	p.P1511S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1511	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCACGCGGGGCGGGCTGTCC	0.632000													4	66					0	0	0.000602214	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			17	15					0	0	0.00400662	0	0
BCKDHB	594	broad.mit.edu	37	6	80878708	80878708	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr6:80878708G>A	ENST00000545529.1	+	5	622	c.594G>A	c.(592-594)caG>caA	p.Q198Q	BCKDHB_ENST00000356489.5_Silent_p.Q198Q|BCKDHB_ENST00000320393.6_Silent_p.Q198Q|BCKDHB_ENST00000369760.4_Silent_p.Q198Q			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	198					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCATTCTCAGAGTCCTGAAG	0.423000													7	81					0	0	0.00198382	0	0
C1orf177	163747	broad.mit.edu	37	1	55279519	55279519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:55279519G>T	ENST00000358193.3	+	7	849	c.795G>T	c.(793-795)aaG>aaT	p.K265N	C1orf177_ENST00000371273.3_Missense_Mutation_p.K265N	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	265										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGAATTTCAAGAGCTTTGTAG	0.413000													6	60					0.00116845	0.00586657	0.00116845	1	0
AP3D1	8943	broad.mit.edu	37	19	2121250	2121250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:2121250C>T	ENST00000355272.6	-	13	1368	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E388K|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	388					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTACCCTCTGCCTTGTCT	0.542000													6	69					0	0	0.00198382	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199851	26199851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr6:26199851C>T	ENST00000359985.1	+	1	104	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	22					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGACCAAGGCGCAGAAGAAG	0.517000													23	117					0	0	0.00229938	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284598	37284598	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:37284598T>G	ENST00000233099.5	-	15	2180	c.2085A>C	c.(2083-2085)gaA>gaC	p.E695D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	695							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCGCTACCAGTTCTCTAAGAA	0.363000													6	23					0	0	0.00116845	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140142	57140142	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:57140142A>C	ENST00000371244.4	+	2	249	c.183A>C	c.(181-183)atA>atC	p.I61I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	61	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTGGAAAAATAAAACGAGAAA	0.294000													18	62					0	0	0.000958276	0	0
TOP2A	7153	broad.mit.edu	37	17	38552685	38552685	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:38552685T>G	ENST00000423485.1	-	28	3728	c.3570A>C	c.(3568-3570)caA>caC	p.Q1190H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1190					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAAGTCCGACTTGTTCATCTT	0.413000													12	108					0	0	0.00136819	0	0
SMTN	6525	broad.mit.edu	37	22	31491537	31491537	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr22:31491537C>A	ENST00000333137.7	+	13	2021	c.1803C>A	c.(1801-1803)gaC>gaA	p.D601E	SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000347557.2_Missense_Mutation_p.D601E|SMTN_ENST00000404574.1_Missense_Mutation_p.D200E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	601					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCACGGACTTTGAAGAGC	0.577000													15	37					3.27435e-08	1.81407e-07	0.00244969	1	0
STK39	27347	broad.mit.edu	37	2	169020294	169020294	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:169020294A>C	ENST00000355999.4	-	4	1232	c.527T>G	c.(526-528)gTt>gGt	p.V176G		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	176	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GCCTTCCAAAACCTCTTTAAG	0.363000													5	50					0	0	0.00198382	0	0
SRPRB	58477	broad.mit.edu	37	3	133538447	133538447	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr3:133538447C>A	ENST00000466490.2	+	8	938	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	218						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGGACAGTTCCAGCACTGCC	0.517000													7	71					0.000673444	0.00345319	0.000673444	1	0
PPOX	5498	broad.mit.edu	37	1	161140306	161140306	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:161140306G>A	ENST00000367999.4	+	10	1361	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.V365V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	365					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCAGAGTGACTGTGAGGA	0.542000													10	66					0	0	0.000442599	0	0
THSD7A	221981	broad.mit.edu	37	7	11468652	11468652	+	Silent	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:11468652C>G	ENST00000423059.3	-	14	3416	c.3165G>C	c.(3163-3165)gtG>gtC	p.V1055V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1055	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACGAACCTTCACACCACTCC	0.517000										HNSCC(18;0.044)			17	317					0	0	0.00400662	0	0
OR4C6	219432	broad.mit.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517000													30	86					0	0	0.00127121	0	0
PDE6C	5146	broad.mit.edu	37	10	95386572	95386572	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr10:95386572G>T	ENST00000371447.3	+	7	1153	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	339	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GACGCCTCCTGCAGACCACTG	0.378000													6	39					8.12818e-05	0.000430526	0.00198382	1	0
RASAL1	8437	broad.mit.edu	37	12	113537802	113537802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:113537802C>A	ENST00000546530.1	-	22	2638	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783Y|RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	783					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGGCACGATCCAGGTCTGCG	0.677000													13	34					5.50884e-06	2.95029e-05	0.00136819	1	0
MYH2	4620	broad.mit.edu	37	17	10447033	10447033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:10447033G>A	ENST00000245503.5	-	8	1120	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448000													6	54					0	0	0.00116845	0	0
PDE3A	5139	broad.mit.edu	37	12	20832977	20832977	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:20832977C>G	ENST00000359062.3	+	16	3238	c.3198C>G	c.(3196-3198)ttC>ttG	p.F1066L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1066	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGAAGACTTTCAAAAGGAGAA	0.358000													7	57					0	0	0.00198382	0	0
USP33	23032	broad.mit.edu	37	1	78194375	78194375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:78194375C>T	ENST00000370793.1	-	11	1179	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	USP33_ENST00000370792.3_Missense_Mutation_p.C278Y|USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370794.3_Missense_Mutation_p.C247Y	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	278					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATCCATTAAACATCGAAGGAA	0.353000													28	50					0	0	0.00106085	0	0
OR2T27	403239	broad.mit.edu	37	1	248814121	248814121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:248814121C>T	ENST00000344889.3	-	1	64	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGGAAACGGGCGTTGCT	0.483000													13	86					0	0	0.00136819	0	0
HEATR1	55127	broad.mit.edu	37	1	236760193	236760193	+	Silent	SNP	T	T	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:236760193T>C	ENST00000366582.3	-	6	801	c.687A>G	c.(685-687)gtA>gtG	p.V229V	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.V229V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	229					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCTCTGCAGCTACCAGCGCCG	0.448000													10	80					0	0	0.000978159	0	0
LAMA1	284217	broad.mit.edu	37	18	7043287	7043287	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr18:7043287A>C	ENST00000389658.3	-	8	1187	c.1094T>G	c.(1093-1095)tTg>tGg	p.L365W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	365	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTTCTGCAAGCAATTTAT	0.388000													58	145					0	0	0.00361006	0	0
TRGV2	6974	broad.mit.edu	37	7	38402707	38402707	+	RNA	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:38402707C>T	ENST00000426402.2	-	0	301																											CAAGTGATTTCAGCAGATGAC	0.483000													7	100					0	0	0.00198382	0	0
CPA4	51200	broad.mit.edu	37	7	129948151	129948151	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:129948151G>T	ENST00000222482.4	+	8	735	c.707G>T	c.(706-708)cGa>cTa	p.R236L	CPA4_ENST00000493259.1_Missense_Mutation_p.R132L|CPA4_ENST00000445470.2_Missense_Mutation_p.R203L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	236					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTTCAGAACCGATTATGGAGG	0.557000													18	44					6.94344e-10	3.93734e-09	0.00074312	1	0
USH2A	7399	broad.mit.edu	37	1	216380633	216380633	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr1:216380633C>G	ENST00000366943.2	-	16	3684	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000307340.3_Missense_Mutation_p.E1100Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1100	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTGATCCTCTGTTGTGTAG	0.373000										HNSCC(13;0.011)			9	48					0	0	0.000274275	0	0
TNKS2	80351	broad.mit.edu	37	10	93602105	93602105	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr10:93602105C>T	ENST00000371627.4	+	16	2395	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	672					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATGTAAATTGCCGCGATACCC	0.418000													4	44					0	0	0.00024832	0	0
ACO2	50	broad.mit.edu	37	22	41919936	41919936	+	Silent	SNP	G	G	A	rs148997312		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr22:41919936G>A	ENST00000396512.3	+	12	1565	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	ACO2_ENST00000216254.4_Silent_p.T491T			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	491					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTTTGTCACGTCCCCAGAGG	0.617000													9	33					0	0	0.000274275	0	0
ZNF823	55552	broad.mit.edu	37	19	11832973	11832973	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:11832973T>G	ENST00000341191.6	-	4	1529	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTCATGATTTTGAAAGGAAGA	0.423000										HNSCC(68;0.2)			6	104					0	0	0.00116845	0	0
GPS1	2873	broad.mit.edu	37	17	80013938	80013938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:80013938G>A	ENST00000392358.2	+	8	1365	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	GPS1_ENST00000306823.6_Missense_Mutation_p.R303Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q|GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTTTGACCGGCAGGAGCTG	0.657000													4	29					0	0	0.00024832	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					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.L1361L(1)		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)		TGGCCTTGGAAAGGACGCGCT	0.652000													3	85					0	0	6.4e-05	0	0
NEIL1	79661	broad.mit.edu	37	15	75641409	75641409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr15:75641409G>A	ENST00000564784.1	+	3	792	c.163G>A	c.(163-165)Gag>Aag	p.E55K	NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	55					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGCGGCAAGGAGCTGCGCCT	0.647000								Base excision repair (BER), DNA glycosylases					4	49					0	0	0.00024832	0	0
NCAN	1463	broad.mit.edu	37	19	19334919	19334919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:19334919A>G	ENST00000252575.5	+	4	608	c.565A>G	c.(565-567)Att>Gtt	p.I189V		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	189	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCAGCCATCATTGCAGCCCC	0.602000													21	45					0	0	0.00152264	0	0
SLC26A1	10861	broad.mit.edu	37	4	985266	985266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr4:985266C>A	ENST00000361661.2	-	3	603	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	76						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGACCAGCCCAGACATGACG	0.662000													5	88					0.000602214	0.00312115	0.000602214	1	0
CACNA1C	775	broad.mit.edu	37	12	2224421	2224421	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:2224421T>A	ENST00000399655.1	+	2	346	c.81T>A	c.(79-81)caT>caA	p.H27Q	CACNA1C_ENST00000347598.4_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	27					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCCCGCCCATGCCAACATGA	0.622000													6	9					0	0	0.00307968	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432406	140432406	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr5:140432406A>T	ENST00000306549.3	+	1	1428	c.1351A>T	c.(1351-1353)Ata>Tta	p.I451L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCAATATTTCGGGA	0.423000													9	60					0	0	0.000442599	0	0
AXIN2	8313	broad.mit.edu	37	17	63526139	63526139	+	Silent	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr17:63526139C>T	ENST00000307078.5	-	11	2800	c.2487G>A	c.(2485-2487)ccG>ccA	p.P829P	AXIN2_ENST00000375702.5_Silent_p.P764P	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	829	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTCATACATCGGGAGCACCG	0.507000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	88					0	0	0.00316338	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816531	80816531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr2:80816531T>G	ENST00000466387.1	+	19	2834	c.2110T>G	c.(2110-2112)Tgg>Ggg	p.W704G	AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.W704G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	704					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGGCCAAATGGGACGACAG	0.498000													9	81					0	0	0.000274275	0	0
ETV6	2120	broad.mit.edu	37	12	12022466	12022466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:12022466G>A	ENST00000396373.4	+	5	846	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	191						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAAATCACCGGCCTTCTCCT	0.642000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								56	336					0	0	0.00361006	0	0
PSG8	440533	broad.mit.edu	37	19	43259212	43259212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:43259212C>T	ENST00000404209.4	-	4	1012	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG8_ENST00000401467.2_Missense_Mutation_p.G213R|PSG8_ENST00000306511.4_Missense_Mutation_p.G306R|PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	306	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATAGGGTCCTGTTTCATTT	0.498000													46	206					0	0	0.00361006	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	8	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140167413	140167413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:140167413delC	ENST00000458420.3	+	6	1030	c.840delC	c.(838-840)ttfs	p.F280fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	280	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCCTGTTCCCCAGCATCC	0.537										HNSCC(16;0.037)			72	112	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													18	1067	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													9	1358	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149488643	149488643	+	RNA	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:149488643delC	ENST00000378016.2	+	0	5094							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTGGGGCCCCTGGAGCC	0.721													2	4	---	---	---	---					
PTDSS1	9791	broad.mit.edu	37	8	97318687	97318687	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:97318687delA	ENST00000517309.1	+	8	1236	c.910delA	c.(910-912)ccfs	p.T304fs	PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	304					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGAGTTGAATACCTTCTTCTT	0.393													67	92	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10821256	10821260	+	Frame_Shift_Del	DEL	CCTTT	CCTTT	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:10821256_10821260delCCTTT	ENST00000526148.1	-	19	2673_2677	c.2163_2167delAAAGG	c.(2161-2169)gggafs	p.GKG721fs	EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	721	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTCAGTCCCTTTCCTTCCAAAA	0.385													10	46	---	---	---	---					
CTD-2313N18.8	0	broad.mit.edu	37	11	71574635	71574635	+	RNA	DEL	A	A	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:71574635delA	ENST00000528518.1	+	0	168																											GTAATGAAGGAAAAAAATGTA	0.428													7	1127	---	---	---	---					
PAN2	9924	broad.mit.edu	37	12	56717351	56717351	+	Frame_Shift_Del	DEL	T	T	-	rs138946880		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:56717351delT	ENST00000425394.2	-	15	2592	c.2216delA	c.(2215-2217)gtfs	p.D739fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	739					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GACAAGAATATCTGGCAGATG	0.488													26	49	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31597034	31597034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr14:31597034delG	ENST00000399332.1	-	26	5426	c.4938delC	c.(4936-4938)tcfs	p.S1647fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1647	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACTCTCACTGGAAGTTGATG	0.353													17	80	---	---	---	---					
ZNF440	126070	broad.mit.edu	37	19	11943494	11943494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11943494delT	ENST00000304060.5	+	4	1667	c.1503delT	c.(1501-1503)ccfs	p.P501fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCAGTTCCTTTTGATATCA	0.413													12	52	---	---	---	---					
CLSTN2	64084	broad.mit.edu	37	3	140167413	140167413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr3:140167413delC	ENST00000458420.3	+	6	1030	c.840delC	c.(838-840)ttfs	p.F280fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	280	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCCTGTTCCCCAGCATCC	0.537										HNSCC(16;0.037)			72	112	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													9	1358	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149488643	149488643	+	RNA	DEL	C	C	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr7:149488643delC	ENST00000378016.2	+	0	5094							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTGGGGCCCCTGGAGCC	0.721													2	4	---	---	---	---					
PTDSS1	9791	broad.mit.edu	37	8	97318687	97318687	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr8:97318687delA	ENST00000517309.1	+	8	1236	c.910delA	c.(910-912)ccfs	p.T304fs	PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	304					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGAGTTGAATACCTTCTTCTT	0.393													67	92	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10821256	10821260	+	Frame_Shift_Del	DEL	CCTTT	CCTTT	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:10821256_10821260delCCTTT	ENST00000526148.1	-	19	2673_2677	c.2163_2167delAAAGG	c.(2161-2169)gggafs	p.GKG721fs	EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	721	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTCAGTCCCTTTCCTTCCAAAA	0.385													10	46	---	---	---	---					
CTD-2313N18.8	0	broad.mit.edu	37	11	71574635	71574635	+	RNA	DEL	A	A	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr11:71574635delA	ENST00000528518.1	+	0	168																											GTAATGAAGGAAAAAAATGTA	0.428													7	1127	---	---	---	---					
PAN2	9924	broad.mit.edu	37	12	56717351	56717351	+	Frame_Shift_Del	DEL	T	T	-	rs138946880		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr12:56717351delT	ENST00000425394.2	-	15	2592	c.2216delA	c.(2215-2217)gtfs	p.D739fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	739					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GACAAGAATATCTGGCAGATG	0.488													26	49	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31597034	31597034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr14:31597034delG	ENST00000399332.1	-	26	5426	c.4938delC	c.(4936-4938)tcfs	p.S1647fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1647	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACTCTCACTGGAAGTTGATG	0.353													17	80	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1																						TGAGTTCTCCTTTTTTTTTTT	0.308													2	4	---	---	---	---					
ZNF440	126070	broad.mit.edu	37	19	11943494	11943494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chr19:11943494delT	ENST00000304060.5	+	4	1667	c.1503delT	c.(1501-1503)ccfs	p.P501fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCAGTTCCTTTTGATATCA	0.413													12	52	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	43395582-90ea-4e50-83a5-6395b7aef658	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---					
