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
TMPRSS15	5651	broad.mit.edu	37	21	19732164	19732164	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr21:19732164A>G	ENST00000284885.3	-	8	823	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGTTTAATGGAAAGTCCTTGG	0.264000													20	32					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498930	5498930	+	Silent	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:5498930T>C	ENST00000355029.4	+	12	1906	c.1764T>C	c.(1762-1764)ggT>ggC	p.G588G	NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	588					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCTTTCTGGTGGCAAACGGA	0.483000													4	89					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318593	43318593	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:43318593G>A	ENST00000374518.4	+	20	3223	c.3160G>A	c.(3160-3162)Gcc>Acc	p.A1054T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1054					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGAAGTGGCCAAATTTGA	0.423000													4	194					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798743	212798743	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:212798743G>A	ENST00000294829.3	+	1	955	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TACCTCTTGCGGCCACCCATG	0.517000													85	128					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	76					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18121764	18121764	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:18121764C>T	ENST00000340650.3	-	1	1087	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	358					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CATGAGTGACCATGGGCTTCG	0.448000													40	59					0	0	1	0	0
CRYBA1	1411	broad.mit.edu	37	17	27580753	27580753	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:27580753G>A	ENST00000225387.3	+	5	454	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	151	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGCAAGCCATGGGCTGGTTCA	0.453000													20	41					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570720	44570720	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:44570720C>T	ENST00000591793.1	+	7	1152	c.1069C>T	c.(1069-1071)Ctt>Ttt	p.L357F	ZNF223_ENST00000434772.3_Missense_Mutation_p.L247F			Q9UK11	ZN223_HUMAN	zinc finger protein 223	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAGATCAGCACTTACAGTTCA	0.418000													5	146					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437641	201437641	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201437641G>T	ENST00000357799.4	+	7	2670	c.2572G>T	c.(2572-2574)Gtc>Ttc	p.V858F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	858					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATCTACAAGTCACAAATGA	0.299000													46	64					2.00842e-17	2.17237e-17	1	1	0
SSMEM1	136263	broad.mit.edu	37	7	129856182	129856182	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:129856182G>A	ENST00000297819.3	+	3	658	c.607G>A	c.(607-609)Gcc>Acc	p.A203T		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		CCACTGCAAAGCCTTGAGAAC	0.483000													98	122					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557000													4	168					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537327	36537327	+	Missense_Mutation	SNP	C	C	G	rs145559179	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr22:36537327C>G	ENST00000424878.2	-	4	2678	c.530G>C	c.(529-531)cGg>cCg	p.R177P	APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P			O95236	APOL3_HUMAN	apolipoprotein L, 3	377					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTGAGCCTGCCGCCTCAGCTC	0.542000													51	75					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170013708	170013708	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:170013708G>A	ENST00000333572.6	-	22	2787	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	726										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCGTGGTCAGGAAAAGGTTAT	0.498000													17	20					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783902	54783902	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:54783902T>C	ENST00000218436.6	-	8	2634	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	869	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GAAAGTGATATGCTTGTGGAA	0.517000													9	33					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432432	53432432	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:53432432C>A	ENST00000322213.4	-	11	2031	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	635	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACCTTGTGGCGCTGGTGGCC	0.562000													20	8					8.10497e-08	8.59127e-08	1	1	0
IAH1	285148	broad.mit.edu	37	2	9628441	9628441	+	Missense_Mutation	SNP	G	G	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:9628441G>C	ENST00000470914.1	+	5	707	c.391G>C	c.(391-393)Gga>Cga	p.G131R	IAH1_ENST00000497473.1_Missense_Mutation_p.G244R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R|IAH1_ENST00000482918.1_Missense_Mutation_p.G131R			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	244					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGTCTGCTGGGAGATGGAGA	0.453000													4	75					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:113138965C>T	ENST00000393845.2	-	5	535	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	157								p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428000													13	23					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733606	84733606	+	Silent	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:84733606C>T	ENST00000372142.2	+	8	958	c.684C>T	c.(682-684)gtC>gtT	p.V228V	NRG3_ENST00000404547.1_Silent_p.V449V|NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000545131.1_Silent_p.V99V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	449	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAAGTTTTGTCGGCCCCCAGT	0.502000													4	61					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028281	45028281	+	RNA	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:45028281G>T	ENST00000454753.1	-	0	488							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCAATGGAGGGTTTGGCCA	0.522000													3	33					1	1	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20569157	20569157	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr4:20569157T>C	ENST00000504154.1	+	28	3119	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	956					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTGTGATGTCCCAATTCAT	0.443000													30	41					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													4	84					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								30	40					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413213	139413213	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr9:139413213C>T	ENST00000277541.6	-	6	1004	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGCAGGTCCCGCCGTTCTG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	55					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	68					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127970947	127970947	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:127970947C>T	ENST00000223073.1	-	10	1168	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	352	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.G352L(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGAAGCTCCCCAAGTTCTTCT	0.428000													26	47					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66206129	66206129	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr15:66206129G>A	ENST00000409699.2	-	20	2828	c.2656C>T	c.(2656-2658)Cgt>Tgt	p.R886C	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	886						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGAGACACGGGGAGCCAGG	0.602000													8	21					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352497	36352497	+	Silent	SNP	A	A	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:36352497A>G	ENST00000312412.4	-	11	1289	c.1290T>C	c.(1288-1290)gaT>gaC	p.D430D	RP11-1407O15.2_ENST00000544906.1_Silent_p.D275D|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						CAAATATCTCATCAACCTCAG	0.393000													7	82					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176833045	176833045	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:176833045C>T	ENST00000253496.3	-	3	181	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	45	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGGGCTCCCCGGTGACA	0.597000									Hereditary Angioedema				9	137					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133774	118133774	+	Silent	SNP	G	G	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:118133774G>T	ENST00000278937.2	-	2	225	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCAGCACCCGGGAGGTATAA	0.463000													14	272					1.35283e-19	1.49375e-19	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76660681	76660681	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:76660681C>A	ENST00000369950.3	-	13	1611	c.1422G>T	c.(1420-1422)atG>atT	p.M474I	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	474					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGGTACTAGCATTGTCTGGT	0.498000													4	78					1	1	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1268736	1268736	+	Silent	SNP	A	A	G	rs71469870		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:1268736A>G	ENST00000447027.1	+	31	10693	c.10635A>G	c.(10633-10635)acA>acG	p.T3545T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGCCACAGCCACACCCA	0.687000													5	165					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637000													7	30					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906799	38906799	+	Silent	SNP	C	C	T			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:38906799C>T	ENST00000312150.4	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	336	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCGCCAGCTGCGCACAGTAGT	0.562000													115	181					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	144					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52474396	52474396	+	Silent	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:52474396G>A	ENST00000231721.2	-	10	1139	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	380	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACTCACCACGCCAGGGCGAG	0.662000													16	14					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255269	155255269	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:155255269G>A	ENST00000297375.4	+	2	1138	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACAAGCGCGCCAAGATCAA	0.597000													4	54					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082449	152082449	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:152082449T>C	ENST00000368804.1	-	2	3243	c.3244A>G	c.(3244-3246)Aag>Gag	p.K1082E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1082	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.K1082E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcttccttccgatattgc	0.607000													5	305					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768318	18768318	+	Missense_Mutation	SNP	C	C	T	rs150116798	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:18768318C>T	ENST00000359846.2	-	3	319	c.242G>A	c.(241-243)cGt>cAt	p.R81H	NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000304081.4_Intron|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATATAAATACGTATTGTGTG	0.547000													16	39					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	76					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)aaafs	p.K790fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K790fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTAAAGAAAAAAAAGAC	0.252													2	4	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)afs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													7	128	---	---	---	---					
IGKV1D-8	0	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													8	189	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													2	4	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36953806	36953816	+	Frame_Shift_Del	DEL	GGGATATGCCC	GGGATATGCCC	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:36953806_36953816delGGGATATGCCC	ENST00000282516.8	+	2	507_517	c.8_18delGGGATATGCCC	c.(7-18)gfs	p.GDMP3fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	3					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATGAATGGGGATATGCCCCATGTCCCCA	0.398													9	119	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21594926	21594926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:21594926delC	ENST00000244745.1	+	1	955	c.161delC	c.(160-162)acfs	p.T54fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	54					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TGGTGCAAGACCCCGAGTGGG	0.687													8	4	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:48653249_48653251delCAC	ENST00000352832.5	+	8	1858_1860	c.1486_1488delCAC	c.(1486-1488)del	p.H504del	CACNA1G_ENST00000359106.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.700													3	6	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795743	42795744	+	Frame_Shift_Ins	INS	-	-	G			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:42795743_42795744insG	ENST00000572681.2	+	12	5527_5528	c.5459_5460insG	c.(5458-5460)cggfs	p.R1820fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.R911fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R911fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.P911P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCGCCCCCGGGTGGCTCAG	0.649			"""Mis, F, S"""		oligodendroglioma								128	74	---	---	---	---					
